ClinVar Miner

List of variants studied for vesicoureteral reflux by Revvity Omics, Revvity

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu) rs185207099 0.00067
NM_001365276.2(TNXB):c.8680G>A (p.Glu2894Lys) rs181699780 0.00053
NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn) rs202227084 0.00051
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr) rs756778483 0.00049
NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val) rs201037895 0.00042
NM_001365276.2(TNXB):c.9617A>G (p.Gln3206Arg) rs201902411 0.00035
NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly) rs377386505 0.00013
NM_001365276.2(TNXB):c.7889G>A (p.Arg2630His) rs374865424 0.00009
NM_001365276.2(TNXB):c.529C>T (p.Pro177Ser) rs369052118 0.00007
NM_001365276.2(TNXB):c.6269C>T (p.Pro2090Leu) rs201997500 0.00005
NM_001365276.2(TNXB):c.1530C>T (p.Gly510=) rs377075950 0.00004
NM_001365276.2(TNXB):c.1650_1651del (p.Glu552fs) rs761635725 0.00002
NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys) rs761561411 0.00001
NM_001365276.2(TNXB):c.4413C>T (p.Ser1471=) rs377135340 0.00001
NM_001365276.2(TNXB):c.7826-1G>C rs200357005 0.00001
NM_001365276.2(TNXB):c.-8-2349G>A
NM_001365276.2(TNXB):c.10291C>T (p.Arg3431Ter)
NM_001365276.2(TNXB):c.11422C>G (p.Arg3808Gly)
NM_001365276.2(TNXB):c.11458C>T (p.Arg3820Cys)
NM_001365276.2(TNXB):c.12493G>A (p.Gly4165Ser)
NM_001365276.2(TNXB):c.1756G>A (p.Gly586Ser)
NM_001365276.2(TNXB):c.1762A>T (p.Arg588Trp)
NM_001365276.2(TNXB):c.200_208delinsTGGAAGG (p.Gly67fs)
NM_001365276.2(TNXB):c.2409A>C (p.Ser803=)
NM_001365276.2(TNXB):c.3301G>A (p.Gly1101Arg)
NM_001365276.2(TNXB):c.3763dup (p.Arg1255fs)
NM_001365276.2(TNXB):c.4426C>T (p.Arg1476Cys)
NM_001365276.2(TNXB):c.4802A>C (p.Glu1601Ala)
NM_001365276.2(TNXB):c.5103C>A (p.Phe1701Leu) rs201360247
NM_001365276.2(TNXB):c.5882_5883del (p.Val1961fs) rs2151915093
NM_001365276.2(TNXB):c.5986A>G (p.Thr1996Ala)
NM_001365276.2(TNXB):c.6171C>T (p.Gly2057=)
NM_001365276.2(TNXB):c.6820G>C (p.Val2274Leu)
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile) rs140304758
NM_001365276.2(TNXB):c.7093A>C (p.Asn2365His)
NM_001365276.2(TNXB):c.8411del (p.Leu2804fs) rs2151900298
NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys) rs759929653
NM_001365276.2(TNXB):c.9758-2_9758-1del rs2151891292
NM_001395656.1(ROBO2):c.1312A>G (p.Thr438Ala)

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