List of variants in gene GGCX studied for Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000821.7(GGCX):c.1906C>A (p.Pro636Thr)	rs61733105	0.00054
NM_000821.7(GGCX):c.763G>A (p.Val255Met)	rs121909683	0.00007
NM_000821.7(GGCX):c.899C>T (p.Ser300Phe)	rs121909684	0.00006
NM_000821.7(GGCX):c.2084+5G>A	rs372812052	0.00003
NM_000821.7(GGCX):c.1538G>A (p.Arg513Lys)	rs575528363	0.00002
NM_000821.7(GGCX):c.1426C>T (p.Arg476Cys)	rs121909681	0.00001
NM_000821.7(GGCX):c.1427G>A (p.Arg476His)	rs121909682	0.00001
G537Y
NM_000821.7(GGCX):c.1120C>T (p.Gln374Ter)	rs121909680
NM_000821.7(GGCX):c.1478G>C (p.Trp493Ser)	rs121909679
NM_000821.7(GGCX):c.1609G>T (p.Gly537Ter)	rs1691965570
NM_000821.7(GGCX):c.1672G>A (p.Gly558Arg)	rs121909678
NM_000821.7(GGCX):c.469T>C (p.Trp157Arg)	rs779018917
NM_000821.7(GGCX):c.896T>C (p.Phe299Ser)	rs121909677

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