List of variants in gene ABCG8 studied for Sitosterolemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	rs137852987	0.00102
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)	rs34754243	0.00100
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)	rs150890296	0.00036
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)	rs137852988	0.00022
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser)	rs201690654	0.00019
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)	rs137852991	0.00013
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)	rs137852989	0.00008
NM_022437.3(ABCG8):c.523_531del	rs886056039
NM_022437.3(ABCG8):c.*96del	rs4148229
NM_022437.3(ABCG8):c.1210del (p.Arg404fs)	rs886056034
NM_022437.3(ABCG8):c.1226A>C (p.Asn409Thr)
NM_022437.3(ABCG8):c.1412-9_1412-8insT	rs138296512
NM_022437.3(ABCG8):c.965-1G>A	rs957176669

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