ClinVar Miner

List of variants studied for alopecia by OMIM

Included ClinVar conditions (26):
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ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_005144.5(HR):c.3064A>G (p.Thr1022Ala) rs7014851 0.08773
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala) rs139426141 0.01139
NM_005144.5(HR):c.2776+1G>A rs773764015 0.00003
NM_177986.5(DSG4):c.865C>T (p.Arg289Ter) rs267606777 0.00003
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys) rs121434309 0.00001
NM_005144.5(HR):c.3034G>A (p.Asp1012Asn) rs121434451 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_177986.5(DSG4):c.574T>C (p.Ser192Pro) rs267606775 0.00001
NM_177986.5(DSG4):c.763del (p.Cys255fs) rs1462595806 0.00001
NM_177986.5(DSG4):c.800C>G (p.Pro267Arg) rs267606776 0.00001
NM_177986.5(DSG4):c.87del (p.Lys30fs) rs1325804776 0.00001
NG_012183.1:g.(2711_2742)_(3942_3973)del
NM_000982.4(RPL21):c.95G>A (p.Arg32Gln) rs587777527
NM_001162498.3(LPAR6):c.373_374del (p.Lys125fs) rs1566212378
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg) rs121434308
NM_001162498.3(LPAR6):c.463C>T (p.Gln155Ter) rs121434306
NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe) rs121434307
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu) rs115596308
NM_001162498.3(LPAR6):c.66_69dup (p.Phe24fs) rs558917628
NM_001264.5(CDSN):c.598C>T (p.Gln200Ter) rs121917820
NM_001264.5(CDSN):c.643C>T (p.Gln215Ter) rs121917819
NM_001941.5(DSC3):c.2129T>G (p.Leu710Ter) rs137852782
NM_001941.5(DSC3):c.2180T>G (p.Leu727Ter) rs2144681220
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro) rs1114167429
NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala) rs886037954
NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val) rs886037954
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys) rs886037955
NM_003094.4(SNRPE):c.133G>A (p.Gly45Ser) rs587776925
NM_003094.4(SNRPE):c.1A>G (p.Met1Val) rs587776924
NM_005144.5(HR):c.1258del (p.Gln420fs)
NM_005144.5(HR):c.1837C>T (p.Arg613Ter) rs121434449
NM_005144.5(HR):c.2147del (p.Pro716fs) rs2131756993
NM_005144.5(HR):c.2847-2_2847-1del
NM_005144.5(HR):c.3407T>A (p.Val1136Asp) rs121434448
NM_005144.5(HR):c.3526C>T (p.Gln1176Ter) rs121434450
NM_005144.5(HR):c.[1258del;1263_1283del]
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr) rs1848064627
NM_139248.3(LIPH):c.346_350del (p.Ile116fs) rs2148959539
NM_139248.3(LIPH):c.659_660del (p.Ile220fs) rs559648418
NM_139248.3(LIPH):c.886+405_1094+962del
NM_153000.5(APCDD1):c.26T>G (p.Leu9Arg) rs267606659
NM_175053.4(KRT74):c.1444G>A (p.Asp482Asn) rs267607477
NM_177986.5(DSG4):c.126_129del (p.Thr43fs)
NM_177986.5(DSG4):c.2038dup (p.Ser680fs) rs786200875
NM_177986.5(DSG4):c.216+1G>T rs1568062215
NM_177986.5(DSG4):c.373-32_1005+292del
NM_177986.5(DSG4):c.968A>G (p.Asp323Gly) rs767724665

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