ClinVar Miner

List of variants in gene POFUT1 studied for Dowling-Degos disease 2

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_015352.2(POFUT1):c.75T>C (p.Pro25=) rs1923095 0.69055
NM_015352.2(POFUT1):c.588A>G (p.Pro196=) rs6579005 0.06274
NM_015352.2(POFUT1):c.964C>T (p.Leu322Phe) rs17268666 0.04125
NM_015352.2(POFUT1):c.1158C>T (p.Asp386=) rs7263390 0.01782
NM_015352.2(POFUT1):c.542+15T>C rs57677611 0.01440
NM_015352.2(POFUT1):c.736-13C>T rs137890154 0.00299
NM_015352.2(POFUT1):c.900G>A (p.Ser300=) rs78861748 0.00283
NM_015352.2(POFUT1):c.937G>A (p.Glu313Lys) rs35968884 0.00185
NM_015352.2(POFUT1):c.1042G>A (p.Asp348Asn) rs35259534 0.00123
NM_015352.2(POFUT1):c.736-11G>A rs200896099 0.00118
NM_015352.2(POFUT1):c.751A>G (p.Met251Val) rs79984831 0.00106
NM_015352.2(POFUT1):c.867G>A (p.Glu289=) rs140900043 0.00097
NM_015352.2(POFUT1):c.365G>A (p.Arg122Gln) rs147591957 0.00069
NM_015352.2(POFUT1):c.741C>T (p.Asn247=) rs138369052 0.00030
NM_015352.2(POFUT1):c.147T>C (p.Asp49=) rs113552438 0.00024
NM_015352.2(POFUT1):c.836C>T (p.Thr279Met) rs148668069 0.00013
NM_015352.2(POFUT1):c.736-12C>T rs370903391 0.00011
NM_015352.2(POFUT1):c.637G>C (p.Val213Leu) rs578147902 0.00007
NM_015352.2(POFUT1):c.735+11C>A rs543224684 0.00006
NM_015352.2(POFUT1):c.1128C>T (p.Phe376=) rs749866179 0.00005
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.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.1036C>G (p.Gln346Glu) rs376777378 0.00002
NM_015352.2(POFUT1):c.542+19G>A rs751678110 0.00002
NM_015352.2(POFUT1):c.736-5C>T rs550972707 0.00002
NM_015352.2(POFUT1):c.784A>G (p.Met262Val) rs748328963 0.00002
NM_015352.2(POFUT1):c.144C>T (p.Ala48=) rs770942717 0.00001
NM_015352.2(POFUT1):c.542+10G>T rs543895409 0.00001
NM_015352.2(POFUT1):c.600C>T (p.Pro200=) rs919433125 0.00001
NM_015352.2(POFUT1):c.1019A>G (p.Asp340Gly)
NM_015352.2(POFUT1):c.1091G>A (p.Arg364Gln)
NM_015352.2(POFUT1):c.1116G>A (p.Pro372=)
NM_015352.2(POFUT1):c.125-20C>G
NM_015352.2(POFUT1):c.188G>A (p.Arg63His)
NM_015352.2(POFUT1):c.21A>G (p.Ala7=)
NM_015352.2(POFUT1):c.245A>C (p.Asn82Thr)
NM_015352.2(POFUT1):c.247-7C>T
NM_015352.2(POFUT1):c.24G>A (p.Arg8=)
NM_015352.2(POFUT1):c.289C>T (p.Gln97Ter) rs1569152303
NM_015352.2(POFUT1):c.372A>T (p.Ala124=)
NM_015352.2(POFUT1):c.394C>G (p.Gln132Glu)
NM_015352.2(POFUT1):c.429+13G>A
NM_015352.2(POFUT1):c.429+14del
NM_015352.2(POFUT1):c.429+17C>T
NM_015352.2(POFUT1):c.430G>T (p.Glu144Ter) rs398123038
NM_015352.2(POFUT1):c.480C>A (p.Asn160Lys)
NM_015352.2(POFUT1):c.482del (p.Lys161fs) rs886041033
NM_015352.2(POFUT1):c.542+11G>C rs139014980
NM_015352.2(POFUT1):c.542+11G>T rs139014980
NM_015352.2(POFUT1):c.564G>A (p.Pro188=)
NM_015352.2(POFUT1):c.624A>G (p.Leu208=)
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.837G>A (p.Thr279=)
NM_015352.2(POFUT1):c.889_890del (p.Trp297fs) rs2122601454
NM_015352.2(POFUT1):c.971A>G (p.Lys324Arg)

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