ClinVar Miner

List of variants reported as likely pathogenic for vesicoureteral reflux

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001272046.2(VWA2):c.1336C>T (p.Arg446Cys) rs148731211 0.00016
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp) rs56345590 0.00010
NM_001365276.2(TNXB):c.1650_1651del (p.Glu552fs) rs761635725 0.00002
NM_001365276.2(TNXB):c.6293dup (p.Glu2100fs) rs764867655 0.00002
NM_001365276.2(TNXB):c.9770C>T (p.Thr3257Ile) rs587777683 0.00002
NM_001365276.2(TNXB):c.4957C>T (p.Arg1653Ter) rs201184519 0.00001
NM_001365276.2(TNXB):c.10004dup (p.Asn3335fs) rs779059111
NM_001365276.2(TNXB):c.10291C>T (p.Arg3431Ter)
NM_001365276.2(TNXB):c.10425del (p.Phe3476fs)
NM_001365276.2(TNXB):c.10623_10624del (p.Pro3542fs) rs755541448
NM_001365276.2(TNXB):c.10765C>T (p.Gln3589Ter)
NM_001365276.2(TNXB):c.10997_10998del (p.Val3666fs)
NM_001365276.2(TNXB):c.11387-2A>G
NM_001365276.2(TNXB):c.11485C>T (p.Arg3829Ter)
NM_001365276.2(TNXB):c.12180C>A (p.Cys4060Ter)
NM_001365276.2(TNXB):c.12240_12243del (p.Asp4081fs)
NM_001365276.2(TNXB):c.1878del (p.His626fs) rs1554334255
NM_001365276.2(TNXB):c.1990C>T (p.Gln664Ter)
NM_001365276.2(TNXB):c.200_208delinsTGGAAGG (p.Gly67fs)
NM_001365276.2(TNXB):c.2044G>T (p.Glu682Ter)
NM_001365276.2(TNXB):c.2306G>A (p.Trp769Ter)
NM_001365276.2(TNXB):c.2543_2546dup (p.Ala850fs)
NM_001365276.2(TNXB):c.2780-2A>G
NM_001365276.2(TNXB):c.3025_3026delinsG (p.Pro1009fs)
NM_001365276.2(TNXB):c.3149-1G>A
NM_001365276.2(TNXB):c.3288del (p.Gln1095_Tyr1096insTer) rs1779660599
NM_001365276.2(TNXB):c.3303del (p.Gln1102fs)
NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
NM_001365276.2(TNXB):c.3842G>A (p.Trp1281Ter)
NM_001365276.2(TNXB):c.3907C>T (p.Gln1303Ter)
NM_001365276.2(TNXB):c.3942dup (p.Thr1315fs) rs2127254498
NM_001365276.2(TNXB):c.404-2A>G
NM_001365276.2(TNXB):c.4706_4707del (p.Thr1569fs)
NM_001365276.2(TNXB):c.4990+1G>T
NM_001365276.2(TNXB):c.580C>T (p.Gln194Ter)
NM_001365276.2(TNXB):c.5816_5829dup (p.Arg1944fs)
NM_001365276.2(TNXB):c.5882_5883del (p.Val1961fs) rs2151915093
NM_001365276.2(TNXB):c.5947dup (p.Glu1983fs)
NM_001365276.2(TNXB):c.612C>A (p.Cys204Ter)
NM_001365276.2(TNXB):c.6221-2_6221-1delinsCA
NM_001365276.2(TNXB):c.6298G>T (p.Glu2100Ter)
NM_001365276.2(TNXB):c.642_650delinsG (p.Trp215fs)
NM_001365276.2(TNXB):c.6841+1G>A
NM_001365276.2(TNXB):c.701_704dup (p.Arg236fs)
NM_001365276.2(TNXB):c.703_704dup (p.Arg236fs)
NM_001365276.2(TNXB):c.7505del (p.Asp2502fs)
NM_001365276.2(TNXB):c.7825+1G>T
NM_001365276.2(TNXB):c.7878dup (p.Ile2627fs)
NM_001365276.2(TNXB):c.7923del (p.Asp2642fs)
NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys) rs759929653
NM_001365276.2(TNXB):c.8571del (p.Asp2858fs)
NM_001365276.2(TNXB):c.8613del (p.Phe2871fs) rs1777434181
NM_001365276.2(TNXB):c.8959A>T (p.Lys2987Ter)
NM_001365276.2(TNXB):c.8998_8999del (p.Gly3000fs)
NM_001365276.2(TNXB):c.9115+1G>A
NM_001365276.2(TNXB):c.9115+2T>C
NM_001365276.2(TNXB):c.9116-1G>A
NM_001365276.2(TNXB):c.9758-2_9758-1del rs2151891292
NM_001365276.2(TNXB):c.9791del (p.Arg3264fs)
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) rs1554844486
NM_022454.4(SOX17):c.245A>G (p.Glu82Gly)
NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu) rs1743394245

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