ClinVar Miner

List of variants in gene WDR45 studied for Inborn genetic diseases

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001029896.2(WDR45):c.838G>A (p.Val280Met) rs149509552 0.00644
NM_001029896.2(WDR45):c.351C>T (p.Ile117=) rs140596058 0.00101
NM_001029896.2(WDR45):c.566A>G (p.Asn189Ser) rs374078317 0.00016
NM_001029896.2(WDR45):c.250G>A (p.Asp84Asn) rs142809324 0.00007
NM_001029896.2(WDR45):c.257G>A (p.Arg86Gln) rs147437546 0.00003
NM_001029896.2(WDR45):c.759C>T (p.Cys253=) rs782478405 0.00003
NM_001029896.2(WDR45):c.326G>A (p.Arg109His) rs782329150 0.00002
NM_001029896.2(WDR45):c.524C>T (p.Ala175Val) rs192312429 0.00002
NM_001029896.2(WDR45):c.870C>T (p.Tyr290=) rs782557596 0.00002
NM_001029896.2(WDR45):c.389A>C (p.Asp130Ala) rs782723092 0.00001
NM_001029896.2(WDR45):c.944A>C (p.Asn315Thr) rs782562675 0.00001
NM_001029896.2(WDR45):c.1045G>A (p.Asp349Asn)
NM_001029896.2(WDR45):c.408dup (p.Glu137Ter) rs1557084239
NM_001029896.2(WDR45):c.439C>T (p.Leu147Phe)
NM_001029896.2(WDR45):c.500_501delinsAT (p.Gly167Asp)
NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter) rs1557084120
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter) rs387907329
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)
NM_001029896.2(WDR45):c.973+5_973+10del rs1569523436
NM_001029896.2(WDR45):c.983T>C (p.Val328Ala)

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