ClinVar Miner

List of variants studied for Dowling-Degos disease by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
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.480C>A (p.Asn160Lys)
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.971A>G (p.Lys324Arg)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.