ClinVar Miner

List of variants in gene WDR45 studied for not specified

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00644
NM_007075.4(WDR45):c.-385G>C rs781955990 0.00270
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058 0.00101
NM_001029896.2(WDR45):c.936C>T (p.Phe312=) rs199814778 0.00020
NM_001029896.2(WDR45):c.342-11G>C rs1057522161 0.00005
NM_001029896.2(WDR45):c.378C>T (p.Tyr126=) rs1361055322 0.00005
NM_001029896.2(WDR45):c.930C>T (p.Cys310=) rs1057523535 0.00003
NM_001029896.2(WDR45):c.827+19C>T rs1461680023 0.00002
NM_001029896.2(WDR45):c.321T>C (p.Ser107=) rs142923330 0.00001
NM_001029896.2(WDR45):c.341+16A>T rs782631059 0.00001
NM_001029896.2(WDR45):c.341+18C>T rs372370133 0.00001
NM_001029896.2(WDR45):c.827+12C>T rs781956491 0.00001
NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr) rs782562675 0.00001
NM_001029896.2(WDR45):c.*19T>A rs372576067
NM_001029896.2(WDR45):c.437-27A>C rs201384117
NM_001029896.2(WDR45):c.564C>T (p.Ile188=) rs782454636
NM_001029896.2(WDR45):c.725+20G>A rs1557084021
NM_001029896.2(WDR45):c.808C>A (p.Arg270Ser) rs782145062
NM_001029896.2(WDR45):c.827+10C>G rs1057524612
NM_001029896.2(WDR45):c.827+12del rs782023833
NM_001029896.2(WDR45):c.863G>T (p.Gly288Val) rs797046104
NM_001029896.2(WDR45):c.871G>A (p.Val291Met) rs1557083897
NM_007075.4(WDR45):c.-372T>C rs1557088039
NM_007075.4(WDR45):c.-50GAAA[1] rs1198593064

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