ClinVar Miner

List of variants reported as uncertain significance for PHARC syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001042472.3(ABHD12):c.-44C>G rs373200654 0.06100
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.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.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.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.836G>A (p.Arg279His) rs180761451 0.00001
NM_001042472.3(ABHD12):c.875G>A (p.Arg292Gln) rs771187489 0.00001
NM_001042472.2(ABHD12):c.-260G>A rs886056566
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.26C>T (p.Ala9Val) rs776381886
NM_001042472.3(ABHD12):c.542+6G>A rs752298031
NM_001042472.3(ABHD12):c.792G>T (p.Thr264=) rs911558545

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