ClinVar Miner

List of variants reported as pathogenic for vesicoureteral reflux

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.9770C>T (p.Thr3257Ile) rs587777683 0.00002
NM_001395656.1(ROBO2):c.3718G>A (p.Ala1240Thr) rs267607015 0.00002
NM_001365276.2(TNXB):c.3991G>A (p.Gly1331Arg) rs587777684 0.00001
NM_001365276.2(TNXB):c.7826-1G>C rs200357005 0.00001
NM_001395656.1(ROBO2):c.2846T>C (p.Ile949Thr) rs267607014 0.00001
46;X;inv(X)(p11.4q24)dn
NM_001365276.2(TNXB):c.12559C>T (p.Arg4187Ter)
NM_001365276.2(TNXB):c.3290_3291del (p.Lys1097fs) rs764070148
NM_001365276.2(TNXB):c.4411del (p.Ser1471fs)
NM_001365276.2(TNXB):c.8411del (p.Leu2804fs) rs2151900298
NM_001375380.1(EBF3):c.280_283del (p.Glu94fs) rs1057519521
NM_015335.5(MED13L):c.1971del (p.Asp657fs) rs1555247805
NM_022454.4(SOX17):c.532G>T (p.Gly178Cys) rs267607082
NM_138425.4(C12orf57):c.53-2A>G rs1114167293
SOX17, 6-BP INS, NT51

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