ClinVar Miner

List of variants reported as likely pathogenic for alopecia

Included ClinVar conditions (26):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_015278.5(SASH1):c.1849G>A (p.Glu617Lys) rs587781245 0.00006
NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) rs201249971 0.00005
NM_139248.3(LIPH):c.742C>A (p.His248Asn) rs201868115 0.00003
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys) rs121434309 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_139248.3(LIPH):c.328C>T (p.Arg110Ter) rs768448663 0.00001
46;XY;t(1;9;5)(compleX)dn
NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val) rs879255262
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg) rs121434308
NM_001162498.3(LPAR6):c.562A>T (p.Ile188Phe) rs121434307
NM_001162498.3(LPAR6):c.742A>T (p.Asn248Tyr)
NM_001162498.3(LPAR6):c.830T>C (p.Leu277Pro)
NM_001162498.3(LPAR6):c.833G>A (p.Cys278Tyr)
NM_001941.5(DSC3):c.1123C>T (p.Arg375Ter)
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)
NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)
NM_003076.5(SMARCD1):c.1051C>T (p.Arg351Cys) rs1253128772
NM_003094.4(SNRPE):c.1A>G (p.Met1Val) rs587776924
NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg) rs2134121169
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972

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