ClinVar Miner

List of variants studied for X-linked cerebral-cerebellar-coloboma syndrome syndrome by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001029896.2(WDR45):c.131-11_145del rs1569523544
NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del) rs864309661
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101

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