ClinVar Miner

List of variants studied for PHARC syndrome

Included ClinVar conditions (1):
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Total variants: 45
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HGVS dbSNP
NC_000020.11:g.25383675_25397545del13871
NM_001042472.2(ABHD12):c.*148C>T rs1046073
NM_001042472.2(ABHD12):c.*297C>G rs11100
NM_001042472.2(ABHD12):c.*320_*321delAG rs58058232
NM_001042472.2(ABHD12):c.*321G>T rs534140287
NM_001042472.2(ABHD12):c.*353G>A rs886056563
NM_001042472.2(ABHD12):c.*377C>T rs886056562
NM_001042472.2(ABHD12):c.*414delA rs886056561
NM_001042472.2(ABHD12):c.*454G>A rs41309917
NM_001042472.2(ABHD12):c.*45G>C rs200450758
NM_001042472.2(ABHD12):c.*83G>A rs2424708
NM_001042472.2(ABHD12):c.-118T>C rs886056565
NM_001042472.2(ABHD12):c.-220G>A rs3827014
NM_001042472.2(ABHD12):c.-221G>A rs879795178
NM_001042472.2(ABHD12):c.-260G>A rs886056566
NM_001042472.2(ABHD12):c.-40_-39insGGCGGAGGC rs3833297
NM_001042472.2(ABHD12):c.-44C>G rs373200654
NM_001042472.2(ABHD12):c.-82_-76delTCTGGGT rs886056564
NM_001042472.2(ABHD12):c.-94C>T rs536190889
NM_001042472.2(ABHD12):c.1041C>T (p.Ile347=) rs188888939
NM_001042472.2(ABHD12):c.1045G>A (p.Ala349Thr) rs746748
NM_001042472.2(ABHD12):c.1068T>C (p.Asp356=) rs10966
NM_001042472.2(ABHD12):c.1124_1129delTTTACA (p.Ile375_Tyr376del) rs1555810299
NM_001042472.2(ABHD12):c.1176G>A (p.Ser392=) rs184232860
NM_001042472.2(ABHD12):c.202G>A (p.Val68Met) rs11904930
NM_001042472.2(ABHD12):c.203T>C (p.Val68Ala) rs140967031
NM_001042472.2(ABHD12):c.211_223del (p.Arg71Tyrfs) rs1555817157
NM_001042472.2(ABHD12):c.334A>T (p.Ile112Phe) rs376230028
NM_001042472.2(ABHD12):c.337_338delGAinsTTT (p.Asp113Phefs) rs1555813914
NM_001042472.2(ABHD12):c.453C>T (p.Asn151=) rs375299452
NM_001042472.2(ABHD12):c.543-13T>C rs575339393
NM_001042472.2(ABHD12):c.557G>C (p.Arg186Pro) rs587777604
NM_001042472.2(ABHD12):c.769C>T (p.Arg257Trp) rs41306784
NM_001042472.2(ABHD12):c.802G>T (p.Ala268Ser) rs186440319
NM_001042472.2(ABHD12):c.837C>T (p.Arg279=) rs6107027
NM_001042472.2(ABHD12):c.858A>C (p.Pro286=) rs372807311
NM_001042472.2(ABHD12):c.874C>T (p.Arg292Ter) rs776800006
NM_001042472.2(ABHD12):c.971C>T (p.Pro324Leu) rs886039872
NM_015600.4(ABHD12):c.-6898_191+7002delinsCC
NM_015600.4(ABHD12):c.1054C>T (p.Arg352Ter) rs267606624
NM_015600.4(ABHD12):c.1116C>G (p.His372Gln) rs587777602
NM_015600.4(ABHD12):c.1157+2023C>T rs527626109
NM_015600.4(ABHD12):c.249C>G (p.Tyr83Ter) rs1303044966
NM_015600.4(ABHD12):c.477G>A (p.Trp159Ter) rs587777603
NM_015600.4(ABHD12):c.846_852dup (p.His285Terfs) rs397704714

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