ClinVar Miner

List of variants reported as uncertain significance for Congenital anomalies of kidney and urinary tract by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 9
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HGVS dbSNP
NM_001253.4(CDC5L):c.1802A>G (p.Lys601Arg) rs368161524
NM_001719.3(BMP7):c.334A>G (p.Ser112Gly) rs755895161
NM_001719.3(BMP7):c.752C>T (p.Thr251Met) rs112344257
NM_001719.3(BMP7):c.900C>G (p.Ser300Arg) rs540533068
NM_004284.6(CHD1L):c.2206A>G (p.Ile736Val) rs369564534
NM_004284.6(CHD1L):c.2278G>A (p.Ala760Thr) rs782687350
NM_004284.6(CHD1L):c.707G>A (p.Arg236His) rs201333837
NM_016932.5(SIX2):c.707C>T (p.Pro236Leu) rs372153489
NM_020975.6(RET):c.1201A>T (p.Ser401Cys) rs140638866

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