ClinVar Miner

List of variants reported as pathogenic for alopecia by OMIM

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP
DSG4, EX5-8DEL
HR, 1-BP DEL, 1256C
HR, 1-BP DEL, 2147C
HR, 1-BP DEL, 3434C
HR, 2-BP DEL, 2847AG
HR, 21-BP DEL, NT1261
HR, IVS12DS, G-A, +1
LIPH, 5-BP DEL, NT346
LIPH, EX4 DEL
LIPH, EXONS 7-8 DEL
LPAR6, 2-BP DEL, 373AA
LPAR6, 4-BP INS, 69CATG
NM_000982.3(RPL21):c.95G>A (p.Arg32Gln) rs587777527
NM_001264.4(CDSN):c.598C>T (p.Gln200Ter) rs121917820
NM_001264.4(CDSN):c.643C>T (p.Gln215Ter) rs121917819
NM_001622.3(AHSG):c.950G>A (p.Arg317His) rs201849460
NM_001957.3(EDNRA):c.386A>T (p.Tyr129Phe) rs786205230
NM_001957.3(EDNRA):c.907G>A (p.Glu303Lys) rs876657388
NM_003094.3(SNRPE):c.133G>A (p.Gly45Ser) rs587776925
NM_003094.3(SNRPE):c.1A>G (p.Met1Val) rs587776924
NM_005144.4(HR):c.-218A>G rs267606869
NM_005144.4(HR):c.-249C>G rs267606868
NM_005144.4(HR):c.-315C>T rs267606867
NM_005144.4(HR):c.-320T>C rs387906382
NM_005144.4(HR):c.1837C>T (p.Arg613Ter) rs121434449
NM_005144.4(HR):c.3034G>A (p.Asp1012Asn) rs121434451
NM_005144.4(HR):c.3407T>A (p.Val1136Asp) rs121434448
NM_005144.4(HR):c.3526C>T (p.Gln1176Ter) rs121434450
NM_005767.5(LPAR6):c.436G>A (p.Gly146Arg) rs121434308
NM_005767.5(LPAR6):c.463C>T (p.Gln155Ter) rs121434306
NM_005767.5(LPAR6):c.562A>T (p.Ile188Phe) rs121434307
NM_005767.5(LPAR6):c.565G>A (p.Glu189Lys) rs121434309
NM_005767.5(LPAR6):c.587C>T (p.Pro196Leu) rs115596308
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_015884.3(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_015884.3(MBTPS2):c.1424T>C (p.Phe475Ser) rs122468179
NM_015884.3(MBTPS2):c.261G>A (p.Met87Ile) rs122468177
NM_015884.3(MBTPS2):c.671-9T>G rs587777305
NM_015884.3(MBTPS2):c.677G>T (p.Trp226Leu) rs122468180
NM_015884.3(MBTPS2):c.680A>T (p.His227Leu) rs122468176
NM_018077.2(RBM28):c.1052T>C (p.Leu351Pro) rs118204055
NM_021926.3(ALX4):c.503delC (p.Pro168Leufs) rs876657391
NM_021926.4(ALX4):c.673C>G (p.Gln225Glu) rs587777701
NM_021926.4(ALX4):c.793C>T (p.Arg265Ter) rs267606653
NM_021978.3(ST14):c.2034del (p.Leu678Phefs) rs587777263
NM_021978.3(ST14):c.2269+1G>A rs587777262
NM_021978.3(ST14):c.2479G>A (p.Gly827Arg) rs137852931
NM_021978.3(ST14):c.3G>A (p.Met1Ile) rs137852932
NM_024423.3(DSC3):c.2129T>G (p.Leu710Ter) rs137852782
NM_139248.3(LIPH):c.659_660del (p.Ile220Argfs)
NM_153000.4(APCDD1):c.26T>G (p.Leu9Arg) rs267606659
NM_175053.3(KRT74):c.1444G>A (p.Asp482Asn) rs267607477
NM_177986.4(DSG4):c.2038dup (p.Ser680Phefs) rs786200875
NM_177986.4(DSG4):c.216+1G>T
NM_177986.4(DSG4):c.574T>C (p.Ser192Pro) rs267606775
NM_177986.4(DSG4):c.763del (p.Cys255Valfs)
NM_177986.4(DSG4):c.800C>G (p.Pro267Arg) rs267606776
NM_177986.4(DSG4):c.865C>T (p.Arg289Ter) rs267606777
NM_177986.4(DSG4):c.87del (p.Lys30Argfs)
NM_206876.1(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_206876.1(PPP1CB):c.166G>C (p.Ala56Pro) rs1114167429
NM_206876.1(PPP1CB):c.548A>C (p.Glu183Ala) rs886037954
NM_206876.1(PPP1CB):c.548A>T (p.Glu183Val) rs886037954
NM_206876.1(PPP1CB):c.820G>A (p.Glu274Lys) rs886037955

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