Table 10.

Variants in the BHMT and BHMT2 genes associated with congenital heart disease in humans.

Variant ID and Type	Population Allelic Frequency (GnomAD)	ACMG Classification	Associated CHD Phenotypes	References
BHMT
rs7700970 NM_001713.3: c.34-266C>T Intron	32%	Benign	Obstructive CHD	[99]
rs506500 NM_001713.3: c.167-745T>C Intron	72%	Benign	Obstructive CHD	[99]
BHMT2
rs1422086 NM_017614.5: c.167-327C>A Intron	53%	Benign	Obstructive CHD	[99]
rs557302 NM_017614.5: c.450+633A>G Intron	44%	Benign	Obstructive CHD	[99]
rs625879 NM_017614.5: c.1010+2010A>C Intron	53%	Benign	Obstructive CHD	[99]
rs526264 NM_017614.5: c.451-222A>T Non-coding transcript exon	53%	Benign	Obstructive CHD	[99]
rs575425 NM_017614.5: c.*5515A>G 3 prime UTR variant	62%	Benign	Obstructive CHD	[99]

Congenital heart disease (CHD), the asterisk (*) at rs575425 indicates that the mutation is located in the 3 prime UTR region.