ClinVar Miner

List of variants studied for PHARC syndrome

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001042472.3(ABHD12):c.191+31_191+36del rs139848340 0.71682
NM_001042472.3(ABHD12):c.951-79A>G rs2260197 0.64898
NM_001042472.2(ABHD12):c.-220G>A rs3827014 0.54397
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_001042472.3(ABHD12):c.*148C>T rs1046073 0.44458
NM_001042472.3(ABHD12):c.*297C>G rs11100 0.44435
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_001042472.3(ABHD12):c.*83G>A rs2424708 0.37241
NM_001042472.3(ABHD12):c.423-68C>T rs2274890 0.21695
NM_001042472.3(ABHD12):c.*320_*321del rs58058232 0.07558
NM_001042472.3(ABHD12):c.-44C>G rs373200654 0.06100
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748 0.04054
NM_001042472.3(ABHD12):c.*454G>A rs41309917 0.02689
NM_001042472.3(ABHD12):c.-94C>T rs536190889 0.02252
NM_001042472.3(ABHD12):c.202G>A (p.Val68Met) rs11904930 0.00770
NM_001042472.3(ABHD12):c.*541G>A rs41304802 0.00734
NM_001042472.3(ABHD12):c.769C>T (p.Arg257Trp) rs41306784 0.00112
NM_001042472.2(ABHD12):c.-221G>A rs879795178 0.00084
NM_001042472.3(ABHD12):c.*331G>A rs927058842 0.00052
NM_001042472.3(ABHD12):c.203T>C (p.Val68Ala) rs140967031 0.00042
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939 0.00036
NM_001042472.3(ABHD12):c.*22A>G rs377339443 0.00029
NM_001042472.3(ABHD12):c.1176G>A (p.Ser392=) rs184232860 0.00029
NM_001042472.3(ABHD12):c.960C>T (p.His320=) rs146195280 0.00023
NM_001042472.3(ABHD12):c.1044C>T (p.Ala348=) rs371418239 0.00020
NM_001042472.3(ABHD12):c.-118T>C rs886056565 0.00014
NM_001042472.3(ABHD12):c.*353G>A rs886056563 0.00013
NM_001042472.3(ABHD12):c.-82_-76del rs886056564 0.00009
NM_001042472.3(ABHD12):c.453C>T (p.Asn151=) rs375299452 0.00009
NM_001042472.3(ABHD12):c.543-13T>C rs575339393 0.00007
NM_001042472.3(ABHD12):c.802G>T (p.Ala268Ser) rs186440319 0.00006
NM_001042472.3(ABHD12):c.94G>T (p.Ala32Ser) rs768563605 0.00006
NM_001042472.3(ABHD12):c.858A>C (p.Pro286=) rs372807311 0.00005
NM_015600.5(ABHD12):c.1157+2023C>T rs527626109 0.00005
NM_001042472.3(ABHD12):c.315C>T (p.Phe105=) rs151069701 0.00004
NM_001042472.3(ABHD12):c.334A>T (p.Ile112Phe) rs376230028 0.00004
NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) rs745990956 0.00003
NM_001042472.3(ABHD12):c.191+15G>A rs369626505 0.00003
NM_001042472.3(ABHD12):c.718G>A (p.Val240Met) rs572997548 0.00002
NM_001042472.3(ABHD12):c.*149G>A rs1013194735 0.00001
NM_001042472.3(ABHD12):c.*177C>T rs889909532 0.00001
NM_001042472.3(ABHD12):c.*377C>T rs886056562 0.00001
NM_001042472.3(ABHD12):c.137C>G (p.Ala46Gly) rs1007058021 0.00001
NM_001042472.3(ABHD12):c.167C>T (p.Ala56Val) rs760720412 0.00001
NM_001042472.3(ABHD12):c.250A>G (p.Ile84Val) rs776224682 0.00001
NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter) rs587777603 0.00001
NM_001042472.3(ABHD12):c.653G>A (p.Arg218Gln) rs1182010524 0.00001
NM_001042472.3(ABHD12):c.836G>A (p.Arg279His) rs180761451 0.00001
NM_001042472.3(ABHD12):c.867+2C>T rs1437849678 0.00001
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter) rs776800006 0.00001
NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln) rs771187489 0.00001
NM_001042472.3(ABHD12):c.967T>C (p.Cys323Arg) rs375661124 0.00001
NC_000020.11:g.25387767_25393170del
NM_001042472.2(ABHD12):c.-260G>A rs886056566
NM_001042472.3(ABHD12):c.*321G>T rs534140287
NM_001042472.3(ABHD12):c.*331G>C rs927058842
NM_001042472.3(ABHD12):c.*414del rs886056561
NM_001042472.3(ABHD12):c.*45G>C rs200450758
NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC rs3833297
NM_001042472.3(ABHD12):c.1015C>T (p.Gln339Ter) rs868586681
NM_001042472.3(ABHD12):c.1029+247_1029+248insC rs3215644
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) rs267606624
NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln) rs587777602
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del) rs1555810299
NM_001042472.3(ABHD12):c.191+24G>C rs77202707
NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs) rs1555817157
NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter) rs1303044966
NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val) rs776381886
NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) rs1555813914
NM_001042472.3(ABHD12):c.542+6G>A rs752298031
NM_001042472.3(ABHD12):c.544G>A (p.Gly182Arg) rs2145961090
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro) rs587777604
NM_001042472.3(ABHD12):c.601dup (p.Val201fs)
NM_001042472.3(ABHD12):c.620-2A>G rs1555811525
NM_001042472.3(ABHD12):c.620G>T (p.Gly207Val) rs2145936237
NM_001042472.3(ABHD12):c.788-1G>T
NM_001042472.3(ABHD12):c.792G>T (p.Thr264=) rs911558545
NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) rs397704714
NM_001042472.3(ABHD12):c.971C>T (p.Pro324Leu) rs886039872
NM_015600.4(ABHD12):c.-6898_191+7002delinsCC
Single allele

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