ClinVar Miner

List of variants studied for Retinitis pigmentosa-deafness syndrome

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_173477.5(USH1G):c.*371= rs1288389465 0.99999
NM_022153.2(VSIR):c.561T>G (p.Asp187Glu) rs3747869 0.90370
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_022153.2(VSIR):c.20T>C (p.Leu7Pro) rs3747862 0.36326
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_173477.5(USH1G):c.*1990A>G rs113905467 0.03761
NM_000260.3(MYO7A):c.*560C>T rs35776264 0.01078
NM_000260.3(MYO7A):c.*546C>T rs115812166 0.00459
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.9198+13C>T rs375384238 0.00061
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) rs562019725 0.00011
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000260.4(MYO7A):c.-160G>A rs576789908 0.00003
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344 0.00002
NM_206933.4(USH2A):c.1789C>A (p.His597Asn) rs201127450 0.00002
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) rs565162134
NM_001384140.1(PCDH15):c.1220C>T (p.Ser407Phe) rs886047067
NM_001384140.1(PCDH15):c.3502-10del rs750835578
NM_001384140.1(PCDH15):c.4368-1360_4368-1359del rs886047056
NM_001384140.1(PCDH15):c.4368-1481_4368-1478dup rs886047057
NM_001384140.1(PCDH15):c.4368-1501dup rs548021914
NM_001384140.1(PCDH15):c.706-17_706-14del rs886047068
NM_002109.6(HARS1):c.397-10_397-9del rs886060020
NM_015404.4(WHRN):c.*325dup rs886063369
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_022124.6(CDH23):c.*117dup rs886047145
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.-197GAGCGGC[3] rs527578984
NM_022124.6(CDH23):c.-197GAGCGGC[5] rs527578984
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.2290-13del rs397517316
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser) rs886047133
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn) rs752442832
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) rs756919394
NM_022124.6(CDH23):c.7661-9C>T rs577559462
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_153676.4(USH1C):c.*419_*420insAACA rs10626485
NM_173477.5(USH1G):c.*1150TG[5] rs368387485
NM_173477.5(USH1G):c.*1168TG[6] rs746904393
NM_173477.5(USH1G):c.*1168TG[8] rs746904393
NM_173477.5(USH1G):c.*1903_*1905dup rs886053382
NM_174878.3(CLRN1):c.*265AT[5] rs550716419
NM_174878.3(CLRN1):c.*277GT[11] rs34027634
NM_174878.3(CLRN1):c.*277GT[12] rs34027634
NM_174878.3(CLRN1):c.*277GT[13] rs34027634
NM_174878.3(CLRN1):c.*277GT[15] rs34027634
NM_174878.3(CLRN1):c.*277GT[16] rs34027634
NM_206933.4(USH2A):c.-229C>T rs151238022
NM_206933.4(USH2A):c.3317-14del rs376363548
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.4(USH2A):c.4252-36CTTT[7] rs372388546
NM_206933.4(USH2A):c.4627+1205_4627+1208del rs751661540
NM_206933.4(USH2A):c.4627+945AT[3] rs886045946
m.12258C>A rs118203888

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