ClinVar Miner

List of variants reported as uncertain significance for Microcephaly 2, primary, autosomal recessive, with or without cortical malformations by Genetic Services Laboratory, University of Chicago

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.*5G>A rs61740165 0.00745
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001083961.2(WDR62):c.589G>A (p.Val197Ile) rs535488873 0.00008
NM_001083961.2(WDR62):c.3515-7G>A rs368668756 0.00006
NM_001083961.2(WDR62):c.2490C>T (p.Asn830=) rs587784547 0.00003
NM_001083961.2(WDR62):c.2566C>T (p.Arg856Cys) rs370558837 0.00003
NM_001083961.2(WDR62):c.3573C>T (p.Asp1191=) rs1054040 0.00003
NM_001083961.2(WDR62):c.3611G>T (p.Gly1204Val) rs587784559 0.00003
NM_001083961.2(WDR62):c.1534C>G (p.Arg512Gly) rs201993064 0.00002
NM_001083961.2(WDR62):c.2896G>A (p.Gly966Arg) rs587784550 0.00002
NM_001083961.2(WDR62):c.3066G>A (p.Ser1022=) rs3746269 0.00002
NM_001083961.2(WDR62):c.3698C>G (p.Ser1233Cys) rs587784560 0.00002
NM_001083961.2(WDR62):c.1486C>T (p.Arg496Trp) rs587784544 0.00001
NM_001083961.2(WDR62):c.2782C>T (p.Leu928=) rs12610991 0.00001
NM_001083961.2(WDR62):c.3336-5C>G rs587784555 0.00001
NM_001083961.2(WDR62):c.3559G>A (p.Val1187Met) rs587784557 0.00001
NM_001083961.2(WDR62):c.1681A>T (p.Ile561Phe) rs587784545
NM_001083961.2(WDR62):c.1750A>C (p.Thr584Pro) rs76456648
NM_001083961.2(WDR62):c.2584G>T (p.Gly862Cys) rs587784548
NM_001083961.2(WDR62):c.2945G>A (p.Ser982Asn) rs11540047
NM_001083961.2(WDR62):c.32G>C (p.Arg11Pro) rs587784552
NM_001083961.2(WDR62):c.3406C>G (p.Arg1136Gly) rs587784556
NM_001083961.2(WDR62):c.3948G>A (p.Gln1316=) rs4375791
NM_001083961.2(WDR62):c.4381T>G (p.Trp1461Gly) rs61734910
NM_001083961.2(WDR62):c.82C>G (p.Arg28Gly) rs200283315
NM_001083961.2(WDR62):c.964G>C (p.Ala322Pro) rs587784561

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