ClinVar Miner

List of variants in gene POFUT1 reported as uncertain significance for Dowling-Degos disease

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_015352.2(POFUT1):c.637G>C (p.Val213Leu) rs578147902 0.00007
NM_015352.2(POFUT1):c.814C>T (p.Arg272Cys) rs773556755 0.00005
NM_015352.2(POFUT1):c.416C>T (p.Thr139Met) rs769388652 0.00004
NM_015352.2(POFUT1):c.90C>G (p.Asp30Glu) rs368413950 0.00004
NM_015352.2(POFUT1):c.1036C>G (p.Gln346Glu) rs376777378 0.00002
NM_015352.2(POFUT1):c.784A>G (p.Met262Val) rs748328963 0.00002
NM_015352.2(POFUT1):c.1019A>G (p.Asp340Gly)
NM_015352.2(POFUT1):c.1091G>A (p.Arg364Gln)
NM_015352.2(POFUT1):c.188G>A (p.Arg63His)
NM_015352.2(POFUT1):c.245A>C (p.Asn82Thr)
NM_015352.2(POFUT1):c.394C>G (p.Gln132Glu)
NM_015352.2(POFUT1):c.429+13G>A
NM_015352.2(POFUT1):c.480C>A (p.Asn160Lys)
NM_015352.2(POFUT1):c.671C>A (p.Ala224Asp) rs1473312089
NM_015352.2(POFUT1):c.694C>T (p.Arg232Trp)
NM_015352.2(POFUT1):c.698C>T (p.Pro233Leu)
NM_015352.2(POFUT1):c.719G>A (p.Arg240His)
NM_015352.2(POFUT1):c.971A>G (p.Lys324Arg)

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