ClinVar Miner

List of variants reported as likely pathogenic for diffuse palmoplantar keratoderma by Invitae

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020751.3(COG6):c.1585-2A>G rs200812708 0.00001
NM_025216.3(WNT10A):c.1028C>T (p.Pro343Leu) rs1944675271 0.00001
NC_000011.9:g.(?_88040961)_(88042398_?)del
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.173-2A>C
NM_001814.6(CTSC):c.485+1G>A
NM_001814.6(CTSC):c.486-25_492del
NM_001814.6(CTSC):c.641+1G>A
NM_001814.6(CTSC):c.642-2A>G
NM_001814.6(CTSC):c.757+1G>T
NM_001814.6(CTSC):c.855dup (p.Gln286fs)
NM_001814.6(CTSC):c.910T>A (p.Tyr304Asn)
NM_025216.3(WNT10A):c.-17_13del (p.Met1_His5del) rs746813123
NM_025216.3(WNT10A):c.1079G>C (p.Arg360Pro) rs893127185
NM_025216.3(WNT10A):c.113+1G>A
NM_025216.3(WNT10A):c.274G>A (p.Ala92Thr)
NM_025216.3(WNT10A):c.318C>G (p.Asn106Lys) rs1283426045
NM_025216.3(WNT10A):c.322T>C (p.Ser108Pro) rs1249944381
NM_025216.3(WNT10A):c.3G>A (p.Met1Ile)
NM_025216.3(WNT10A):c.662G>T (p.Gly221Val)

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