ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa-deafness syndrome

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Total variants: 56
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HGVS dbSNP
NM_000260.4(MYO7A):c.-160G>A rs576789908
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln) rs565162134
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399
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.4368-2209_4368-2204del rs397517465
NM_001384140.1(PCDH15):c.4368-2251CCT[3] rs397517462
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_022124.6(CDH23):c.*104G>C rs377312107
NM_022124.6(CDH23):c.*117dup rs886047145
NM_022124.6(CDH23):c.*141G>A rs535544696
NM_022124.6(CDH23):c.*361C>A rs115033851
NM_022124.6(CDH23):c.*430A>T rs562268606
NM_022124.6(CDH23):c.*434G>A rs529522213
NM_022124.6(CDH23):c.*515C>A rs16929375
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.*68G>C rs527311705
NM_022124.6(CDH23):c.-197GAGCGGC[3] rs527578984
NM_022124.6(CDH23):c.-197GAGCGGC[5] rs527578984
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) rs562019725
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
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.446C>T (p.Thr149Met) rs370947344
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) rs756919394
NM_022124.6(CDH23):c.7661-9C>T rs577559462
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174
NM_022124.6(CDH23):c.9198+13C>T rs375384238
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_173477.5(USH1G):c.*1150_*1151TG[5] rs368387485
NM_173477.5(USH1G):c.*1168_*1169TG[8] rs746904393
NM_173477.5(USH1G):c.*1903_*1905dup rs886053382
NM_174878.3(CLRN1):c.*265_*266AT[5] rs550716419
NM_174878.3(CLRN1):c.*277_*278GT[11] rs34027634
NM_174878.3(CLRN1):c.*277_*278GT[12] rs34027634
NM_174878.3(CLRN1):c.*277_*278GT[15] rs34027634
NM_174878.3(CLRN1):c.*277_*278GT[16] rs34027634
NM_206933.4(USH2A):c.-229C>T rs151238022
NM_206933.4(USH2A):c.1789C>A (p.His597Asn) rs201127450
NM_206933.4(USH2A):c.3317-14del rs376363548
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

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