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. 2018 Sep 5;39(12):1803–1813. doi: 10.1002/humu.23615

Table 4.

hgvs package normalization results for transcript variants and genomic variants from ClinVar release 2017‐05

Transcript variants Genomic variants
Number Percent Example Number Percent Example
Correctly written as‐is 231,127 99.622% 273,210 95.899%
3′ shiftable 710 0.306% 11,617 4.078%
Rewritable 213 0.092% 285 0.100%
Both 3′ shiftable and rewritable 47 0.020% 220 0.077%
Duplicate variants after normalizing 30 0.013% 55 0.019%