List of variants in gene TRPV6 reported as likely pathogenic for bone disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_018646.6(TRPV6):c.1646A>G (p.Tyr549Cys)	rs750624044	0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)	rs529924080	0.00006
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu)	rs759393722	0.00002
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln)	rs1281361203	0.00001
NM_018646.6(TRPV6):c.1447C>T (p.Arg483Trp)	rs755916513	0.00001
NM_018646.6(TRPV6):c.1282G>A (p.Gly428Arg)	rs1327315227
NM_018646.6(TRPV6):c.254G>A (p.Trp85Ter)	rs2486212016
NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr)	rs1586190048
NM_018646.6(TRPV6):c.715_724del (p.Val239fs)	rs1266068657

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