ClinVar Miner

List of variants in gene WDR73 reported as pathogenic for Galloway-Mowat syndrome 1

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Total variants: 10
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NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) rs754099015
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) rs727502863
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.400_401del (p.Trp136fs) rs767086146
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) rs797044993
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) rs1596050297
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994

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