ClinVar Miner

List of variants studied for Congenital anomalies of kidney and urinary tract

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Total variants: 14
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HGVS dbSNP
NM_001127671.2(LIFR):c.1273_1276del (p.Val425fs) rs1114167358
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
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_003489.4(NRIP1):c.279del (p.Asp92_Trp93insTer) rs1555879360
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_015047.3(EMC1):c.2619_2622del (p.Pro874fs) rs869320624
NM_016932.5(SIX2):c.707C>T (p.Pro236Leu) rs372153489
NM_020975.6(RET):c.1201A>T (p.Ser401Cys) rs140638866

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