ClinVar Miner

List of variants reported as pathogenic for Nance-Horan syndrome

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_17393861)_(17653740_?)del
NC_000023.10:g.(?_17393861)_(17753592_?)del
NC_000023.10:g.(?_17705842)_(17710608_?)del
NC_000023.10:g.(?_17710435)_(17750584_?)del
NC_000023.11:g.(?_17687722)_(17692488_?)dup
NC_000023.11:g.(?_17692315)_(17692488_?)del
NM_001291867.2(NHS):c.1084del (p.Cys362fs)
NM_001291867.2(NHS):c.1105dup (p.Thr369fs) rs2066406973
NM_001291867.2(NHS):c.1159C>T (p.Gln387Ter) rs2147140951
NM_001291867.2(NHS):c.115C>T (p.Gln39Ter) rs104894881
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter) rs132630322
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter) rs1556038028
NM_001291867.2(NHS):c.134dup (p.Asp45fs)
NM_001291867.2(NHS):c.1462_1465del (p.Asp488fs) rs1556038355
NM_001291867.2(NHS):c.2327_2328del (p.His776fs) rs2066444344
NM_001291867.2(NHS):c.2450dup (p.Ser818fs) rs786205255
NM_001291867.2(NHS):c.2477G>A (p.Trp826Ter) rs1569319773
NM_001291867.2(NHS):c.277G>T (p.Glu93Ter) rs1341004065
NM_001291867.2(NHS):c.2897C>A (p.Ser966Ter)
NM_001291867.2(NHS):c.3021del (p.Phe1007fs)
NM_001291867.2(NHS):c.3285del (p.His1095fs) rs2066454000
NM_001291867.2(NHS):c.3307_3323del (p.His1103fs)
NM_001291867.2(NHS):c.3522del (p.Leu1175fs) rs786205256
NM_001291867.2(NHS):c.3658_3662del (p.Asn1220fs) rs1601859570
NM_001291867.2(NHS):c.3659dup (p.Asn1220fs)
NM_001291867.2(NHS):c.372dup (p.Cys125fs)
NM_001291867.2(NHS):c.375C>A (p.Cys125Ter) rs2064345759
NM_001291867.2(NHS):c.3801_3802del (p.Ala1268fs)
NM_001291867.2(NHS):c.3979_3982del (p.Ser1327fs) rs2147145062
NM_001291867.2(NHS):c.4156A>T (p.Lys1386Ter) rs1556039901
NM_001291867.2(NHS):c.4315C>T (p.Arg1439Ter) rs2147145827
NM_001291867.2(NHS):c.502C>T (p.Gln168Ter) rs1484691355
NM_001291867.2(NHS):c.50_53del (p.Arg17fs) rs2146834311
NM_001291867.2(NHS):c.718+1dup rs1556030707
NM_001291867.2(NHS):c.742C>T (p.Arg248Ter) rs1569310232
NM_001291867.2(NHS):c.766dup (p.Leu256fs) rs2147115316
NM_001291867.2(NHS):c.814C>T (p.Gln272Ter) rs1569310288
NM_001291867.2(NHS):c.852+1del rs786205677
NM_001291867.2(NHS):c.86del (p.Gly29fs)
NM_001291867.2(NHS):c.916-2A>G rs786205257
NM_001291867.2(NHS):c.916-2A>T rs786205257
NM_001291867.2(NHS):c.[107C>G;111del]

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