ClinVar Miner

List of variants in gene WDR62 reported as likely pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001083961.2(WDR62):c.3335+3A>G rs587784554 0.00003
NM_001083961.2(WDR62):c.1194G>A (p.Trp398Ter) rs769137869 0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083 0.00001
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser) rs587784548 0.00001
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr) rs587784558 0.00001
NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys) rs587784542
NM_001083961.2(WDR62):c.1526C>T (p.Ser509Leu) rs1026664479
NM_001083961.2(WDR62):c.1589dup (p.Glu531fs)
NM_001083961.2(WDR62):c.1684C>G (p.His562Asp) rs1379578836
NM_001083961.2(WDR62):c.1963dup (p.Tyr655fs)
NM_001083961.2(WDR62):c.2035-2A>G
NM_001083961.2(WDR62):c.2260C>T (p.Gln754Ter) rs2145795692
NM_001083961.2(WDR62):c.2486C>T (p.Thr829Ile)
NM_001083961.2(WDR62):c.269+1G>T
NM_001083961.2(WDR62):c.270-15_287del rs2145528028
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)
NM_001083961.2(WDR62):c.332G>C (p.Arg111Thr) rs1970564827
NM_001083961.2(WDR62):c.3348del (p.Phe1117fs) rs797046109
NM_001083961.2(WDR62):c.3412G>T (p.Gly1138Ter)
NM_001083961.2(WDR62):c.3711_3714del (p.Ser1237fs)
NM_001083961.2(WDR62):c.4345C>T (p.Gln1449Ter) rs1301404126
NM_001083961.2(WDR62):c.659A>G (p.His220Arg) rs2145586826
NM_001083961.2(WDR62):c.836G>A (p.Cys279Tyr) rs1971033478
NM_001083961.2(WDR62):c.883-4_890del rs1568334868
NM_001083961.2(WDR62):c.897del (p.Cys300fs)

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