ClinVar Miner

List of variants studied for Dowling-Degos disease 2

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
NM_015352.2(POFUT1):c.1155G>A (p.Arg385=) rs780991231
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.588A>G (p.Pro196=) rs6579005
NM_015352.2(POFUT1):c.90C>G (p.Asp30Glu)
NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe) rs17268666

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