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. 2022 Sep 26;109(10):1814–1827. doi: 10.1016/j.ajhg.2022.09.003

Table 1.

Population frequencies for four RABEP2-coding variants

Population p.Arg508Ser
p.Ser204Leu
p.Arg490Trp
p.Arg543His
Allele
Allele
allele
allele
Count num. freq. count num. freq. count num. freq. count num. freq.
Ashkenazi Jewish 29 10,036 0.00289 0 10,168 0 0 10,326 0 0 10,268 0
European (non-Finnish) 136 124,560 0.001092 7 124,038 0.0000564 0 128,000 0 0 125,522 0
European (Finnish) 1 23,762 0.0000421 84 24,870 0.003378 0 24,992 0 0 21,320 0
African/African American 2 23,348 0.0000857 0 23,748 0 2 24,130 0.0000829 15 23,982 0.0006255
Latino/admixed American 22 34,648 0.000635 0 35,250 0 0 35,346 0 0 35,236 0
East Asian 1 19,204 0.0000521 0 19,486 0 31 19,514 0.001589 0 19,490 0
South Asian 34 29,398 0.001157 0 30,506 0 1 30,600 0.0000328 1 30,534 0.0000327
Other 14 6,904 0.002028 0 7,058 0 0 7,128 0 0 7,052 0
XX 91 123,556 0.0007365 44 124,658 0.000353 17 127,538 0.0001333 9 123,862 0.0000727
XY 148 148,304 0.000998 47 150,466 0.0003124 17 152,498 0.0001115 7 149,542 0.0000468
Total 239 271,860 0.0008791 91 275,124 0.0003308 34 280,036 0.0001214 16 273,404 0.0000585

The list displays population-based allele frequencies of RABEP2-coding variants. While one (p.Arg508Ser) is widely distributed across populations, p.Ser204Leu, p.Arg490Trp, or p.Arg543His exclusively segregate in the European, East Asian, or African/African American populations, respectively.