ClinVar Miner

List of variants in gene TRPV6 studied for hyperparathyroidism

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_018646.6(TRPV6):c.1092C>T (p.Tyr364=) rs4987663 0.01482
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.1274G>A (p.Arg425Gln) rs1281361203 0.00003
NM_018646.6(TRPV6):c.978_979del (p.Gly327_Asp328insTer) rs1342435095 0.00003
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) rs759393722 0.00002
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.1744G>A (p.Asp582Asn) rs745903672
NM_018646.6(TRPV6):c.1969G>A (p.Gly657Arg)
NM_018646.6(TRPV6):c.1978G>C (p.Gly660Arg) rs780306040
NM_018646.6(TRPV6):c.254G>A (p.Trp85Ter)
NM_018646.6(TRPV6):c.524C>T (p.Ala175Val) rs1795093724
NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs) rs766719790
NM_018646.6(TRPV6):c.607+5G>A rs1200458339
NM_018646.6(TRPV6):c.614A>G (p.His205Arg)
NM_018646.6(TRPV6):c.635G>A (p.Cys212Tyr) rs1586190048
NM_018646.6(TRPV6):c.713C>G (p.Thr238Arg) rs1795077287
NM_018646.6(TRPV6):c.715_724del (p.Val239fs)
NM_018646.6(TRPV6):c.970G>A (p.Asp324Asn)

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