ClinVar Miner

List of variants reported as likely pathogenic for parathyroid gland disorder by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
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.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.635G>A (p.Cys212Tyr) rs1586190048

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