ClinVar Miner

List of variants reported as likely benign for Dowling-Degos disease 2

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_015352.2(POFUT1):c.365G>A (p.Arg122Gln) rs147591957 0.00069
NM_015352.2(POFUT1):c.836C>T (p.Thr279Met) rs148668069 0.00013
NM_015352.2(POFUT1):c.1128C>T (p.Phe376=) rs749866179 0.00005
NM_015352.2(POFUT1):c.1032C>T (p.Leu344=) rs372193120 0.00003
NM_015352.2(POFUT1):c.1155G>A (p.Arg385=) rs780991231 0.00003
NM_015352.2(POFUT1):c.125-15A>G rs779481012 0.00003
NM_015352.2(POFUT1):c.234T>G (p.Pro78=) rs778155129 0.00003
NM_015352.2(POFUT1):c.542+19G>A rs751678110 0.00002
NM_015352.2(POFUT1):c.144C>T (p.Ala48=) rs770942717 0.00001
NM_015352.2(POFUT1):c.600C>T (p.Pro200=) rs919433125 0.00001
NM_015352.2(POFUT1):c.1116G>A (p.Pro372=)
NM_015352.2(POFUT1):c.125-20C>G
NM_015352.2(POFUT1):c.21A>G (p.Ala7=)
NM_015352.2(POFUT1):c.247-7C>T
NM_015352.2(POFUT1):c.24G>A (p.Arg8=)
NM_015352.2(POFUT1):c.372A>T (p.Ala124=)
NM_015352.2(POFUT1):c.429+14del
NM_015352.2(POFUT1):c.564G>A (p.Pro188=)
NM_015352.2(POFUT1):c.624A>G (p.Leu208=)
NM_015352.2(POFUT1):c.837G>A (p.Thr279=)

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