List of variants in gene ABCC6 reported by Mendelics

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)	rs2238472	0.22903
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)	rs41278174	0.01708
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)	rs72653756	0.00214
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)	rs72653788	0.00006
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)	rs63750428	0.00004
NM_001171.6(ABCC6):c.1609del (p.Val537fs)	rs1596678798
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)	rs1596649191

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