ClinVar Miner

List of variants reported as uncertain significance for Congenital anomaly of kidney and urinary tract

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_001719.3(BMP7):c.752C>T (p.Thr251Met) rs112344257 0.00034
NM_002941.4(ROBO1):c.818T>C (p.Val273Ala) rs80030397 0.00034
NM_002968.3(SALL1):c.477C>A (p.Ser159Arg) rs757737676 0.00028
NM_016932.5(SIX2):c.707C>T (p.Pro236Leu) rs372153489 0.00022
NM_001379081.2(FREM1):c.1640C>G (p.Ala547Gly) rs201056172 0.00019
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_004284.6(CHD1L):c.707G>A (p.Arg236His) rs201333837 0.00007
NM_004284.6(CHD1L):c.2206A>G (p.Ile736Val) rs369564534 0.00006
NM_004284.6(CHD1L):c.2278G>A (p.Ala760Thr) rs782687350 0.00006
NM_002941.4(ROBO1):c.2708T>C (p.Ile903Thr) rs746294354 0.00005
NM_001395656.1(ROBO2):c.1930C>T (p.Arg644Cys) rs763833545 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_020975.6(RET):c.1201A>T (p.Ser401Cys) rs140638866 0.00003
NM_025074.7(FRAS1):c.8604+5G>A rs200282443 0.00003
NM_001395656.1(ROBO2):c.1576C>A (p.Pro526Thr) rs750974106 0.00002
NM_001395656.1(ROBO2):c.3718G>A (p.Ala1240Thr) rs267607015 0.00002
NM_001253.4(CDC5L):c.1802A>G (p.Lys601Arg) rs368161524 0.00001
NM_001395656.1(ROBO2):c.2309A>G (p.Asp770Gly) rs1559650461 0.00001
NM_001395656.1(ROBO2):c.2846T>C (p.Ile949Thr) rs267607014 0.00001
NM_001395656.1(ROBO2):c.3724G>A (p.Asp1242Asn) rs1333751060 0.00001
NM_001719.3(BMP7):c.334A>G (p.Ser112Gly) rs755895161 0.00001
NM_020975.6(RET):c.334C>T (p.Arg112Cys) rs762626209 0.00001
NM_024408.4(NOTCH2):c.1682-10C>A rs782581707 0.00001
NM_000214.3(JAG1):c.323A>T (p.Asn108Ile) rs2067505956
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_001080512.3(BICC1):c.1005G>T (p.Gln335His) rs1187480950
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001395656.1(ROBO2):c.2275A>C (p.Ser759Arg) rs910956713
NM_001395656.1(ROBO2):c.2407G>A (p.Val803Ile) rs759802937
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp) rs2071367863
NM_001395656.1(ROBO2):c.3830_3832del (p.Ser1277del) rs2095237973
NM_001395656.1(ROBO2):c.676A>G (p.Thr226Ala) rs2086360838
NM_001395656.1(ROBO2):c.760C>G (p.Pro254Ala) rs772503893
NM_001395656.1(ROBO2):c.95G>A (p.Arg32Gln) rs754279676
NM_001395656.1(ROBO2):c.994G>A (p.Gly332Ser) rs986191822
NM_001719.3(BMP7):c.900C>G (p.Ser300Arg) rs540533068
NM_002941.4(ROBO1):c.2065T>C (p.Ser689Pro) rs1707436610
NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg) rs889576974
NM_003482.4(KMT2D):c.10909C>T (p.Pro3637Ser) rs775182190
NM_020762.4(SRGAP1):c.2566C>G (p.Pro856Ala) rs748723181
NM_020975.6(RET):c.1934_1936del (p.Ser645del) rs1416677590
NM_025074.7(FRAS1):c.1867T>C (p.Cys623Arg) rs1560650709
NM_025074.7(FRAS1):c.7832A>G (p.Tyr2611Cys) rs1480978100
NM_207361.6(FREM2):c.6041A>T (p.Asp2014Val) rs548838018

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