ClinVar Miner

List of variants in gene WDR45 reported by Mendelics

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001029896.2(WDR45):c.599dup (p.Asn201fs) rs1557084066
NM_001029896.2(WDR45):c.618del (p.Val207fs) rs1602538023
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del) rs1064793294
NM_001029896.2(WDR45):c.785A>C (p.His262Pro) rs2147815135
NM_001029896.2(WDR45):c.827+1G>T rs1557083958

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