ClinVar Miner

List of variants in gene TRPV3 reported as likely benign for hereditary skin disorder

Included ClinVar conditions (791):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_145068.4(TRPV3):c.224+8C>T rs113563330 0.00898
NM_145068.4(TRPV3):c.2321C>T (p.Thr774Ile) rs7212634 0.00712
NM_145068.4(TRPV3):c.*25dup rs575765196 0.00577
NM_145068.4(TRPV3):c.*56dup rs559927242 0.00011
NM_145068.4(TRPV3):c.540C>A (p.Asn180Lys) rs137894635 0.00009
NM_145068.4(TRPV3):c.2086-5C>T rs200251594 0.00006
NM_145068.4(TRPV3):c.784+4G>A rs758501345 0.00004
NM_145068.4(TRPV3):c.1063G>A (p.Glu355Lys) rs747712652 0.00003
NM_145068.4(TRPV3):c.1935G>T (p.Gln645His) rs146839243 0.00002
NM_145068.4(TRPV3):c.380T>C (p.Val127Ala) rs781225444 0.00001
NM_145068.4(TRPV3):c.853G>A (p.Glu285Lys) rs748594064 0.00001

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