ClinVar Miner

List of variants studied for Microcephaly 2, primary, autosomal recessive, with or without cortical malformations by Revvity Omics, Revvity

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu) rs139460397 0.00077
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.3469G>A (p.Ala1157Thr) rs144347678 0.00003
NM_001083961.2(WDR62):c.1194G>A (p.Trp398Ter) rs769137869 0.00001
NM_001083961.2(WDR62):c.1024G>A (p.Ala342Thr)
NM_001083961.2(WDR62):c.1234-1G>A rs2145706114
NM_001083961.2(WDR62):c.1892T>C (p.Leu631Ser)
NM_001083961.2(WDR62):c.1906A>C (p.Ile636Leu)
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del) rs764610550
NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs) rs2145516989
NM_001083961.2(WDR62):c.2284C>T (p.Arg762Trp)
NM_001083961.2(WDR62):c.2418T>G (p.Cys806Trp)
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs) rs764201220
NM_001083961.2(WDR62):c.3322C>T (p.Gln1108Ter)
NM_001083961.2(WDR62):c.3711_3714del (p.Ser1237fs)
NM_001083961.2(WDR62):c.423T>C (p.Asp141=) rs1174425209
NM_001083961.2(WDR62):c.460C>T (p.His154Tyr)
NM_001083961.2(WDR62):c.571G>A (p.Val191Ile)
NM_001083961.2(WDR62):c.66G>A (p.Met22Ile)

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