ClinVar Miner

List of variants in gene POFUT1 reported as pathogenic for Dowling-Degos disease 2

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter) rs1569152303
NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter) rs398123038
NM_015352.2(POFUT1):c.482del (p.Lys161fs) rs886041033
NM_015352.2(POFUT1):c.889_890del (p.Trp297fs) rs2122601454

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