ClinVar Miner

List of variants in gene TRIOBP reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 28

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404 0.00115
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) rs201730395 0.00103
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) rs138804394 0.00071
NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu) rs200313246 0.00067
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) rs144995033 0.00037
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) rs372134073 0.00022
NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser) rs201693690 0.00019
NM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser) rs374217208 0.00015
NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val) rs778331588 0.00013
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn) rs147691840 0.00008
NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly) rs750078356 0.00005
NM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His) rs370737996 0.00005
NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met) rs748502827 0.00002
NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp) rs780554525 0.00002
NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) rs370666072 0.00001
NM_001039141.3(TRIOBP):c.2674C>G (p.Pro892Ala) rs749092668 0.00001
NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp) rs772305308 0.00001
NM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu) rs750498327 0.00001
NM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys) rs747588173
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) rs1569041188
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) rs1555896093
NM_001039141.3(TRIOBP):c.2069C>G (p.Thr690Ser)
NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys) rs1924041789
NM_001039141.3(TRIOBP):c.2335A>G (p.Arg779Gly)
NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser) rs751067115
NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly) rs183811513
NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly) rs752019502
NM_001039141.3(TRIOBP):c.3310G>A (p.Glu1104Lys)
NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter) rs1924587856
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) rs773013563
NM_001039141.3(TRIOBP):c.5849C>T (p.Pro1950Leu) rs564660033
NM_001039141.3(TRIOBP):c.6416G>A (p.Arg2139His)
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr) rs2145831991

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