ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 26
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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.24G>A (p.Arg8=) rs758297493 0.00017
NM_015352.2(POFUT1):c.836C>T (p.Thr279Met) rs148668069 0.00012
NM_015352.2(POFUT1):c.564G>A (p.Pro188=) rs376992212 0.00007
NM_015352.2(POFUT1):c.1116G>A (p.Pro372=) rs780544892 0.00004
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.825G>A (p.Ala275=) rs765364279 0.00003
NM_015352.2(POFUT1):c.247-7C>T rs764937706 0.00002
NM_015352.2(POFUT1):c.542+19G>A rs751678110 0.00002
NM_015352.2(POFUT1):c.1128C>T (p.Phe376=) rs749866179 0.00001
NM_015352.2(POFUT1):c.144C>T (p.Ala48=) rs770942717 0.00001
NM_015352.2(POFUT1):c.21A>G (p.Ala7=) rs1048409950 0.00001
NM_015352.2(POFUT1):c.600C>T (p.Pro200=) rs919433125 0.00001
NM_015352.2(POFUT1):c.1029C>T (p.Ile343=)
NM_015352.2(POFUT1):c.124+9T>A
NM_015352.2(POFUT1):c.125-20C>G rs2516173882
NM_015352.2(POFUT1):c.372A>T (p.Ala124=) rs778816575
NM_015352.2(POFUT1):c.429+14del rs779185098
NM_015352.2(POFUT1):c.624A>G (p.Leu208=) rs2516194406
NM_015352.2(POFUT1):c.714T>C (p.His238=)
NM_015352.2(POFUT1):c.735+19T>C
NM_015352.2(POFUT1):c.837G>A (p.Thr279=) rs781013684
NM_015352.2(POFUT1):c.915G>A (p.Ser305=)

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