ClinVar Miner

List of variants reported as uncertain significance for Retinal dystrophy by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) rs147593839 0.00806
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_001297.5(CNGB1):c.2681G>A (p.Arg894His) rs146762538 0.00043
NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp) rs142092713 0.00009
NM_015404.4(WHRN):c.1808G>T (p.Gly603Val) rs368141295 0.00006
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_001379270.1(CNGA1):c.1535T>G (p.Met512Arg) rs761947277 0.00003
NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr) rs878853353 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_006017.3(PROM1):c.694+4A>T rs375952708 0.00002
NM_014014.5(SNRNP200):c.2879C>T (p.Ala960Val) rs138686895 0.00002
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377 0.00001
NM_001379270.1(CNGA1):c.629A>T (p.Asp210Val) rs775886085 0.00001
NM_002335.4(LRP5):c.121C>T (p.Arg41Trp) rs745454417 0.00001
NM_006017.3(PROM1):c.1141+1G>A rs878853401 0.00001
NM_006017.3(PROM1):c.1579-1G>C rs372513650 0.00001
NM_006269.2(RP1):c.539T>G (p.Phe180Cys) rs557432569 0.00001
NM_006445.4(PRPF8):c.4131C>T (p.Ser1377=) rs761899545 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_153676.4(USH1C):c.1210+5G>A rs372285784 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000329.3(RPE65):c.726-2A>C rs878853372
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) rs878853398
NM_000554.6(CRX):c.100+1G>C rs878853384
NM_001034853.2(RPGR):c.1572+1del rs878853373
NM_001034853.2(RPGR):c.908G>A (p.Gly303Glu) rs878853375
NM_001297.5(CNGB1):c.2096A>G (p.Asp699Gly) rs878853393
NM_001297.5(CNGB1):c.2893G>A (p.Gly965Ser) rs559591083
NM_001298.3(CNGA3):c.1931T>C (p.Phe644Ser) rs878853359
NM_001354768.3(NRL):c.586_627dup (p.Ala196_Ala209dup) rs878853356
NM_002335.4(LRP5):c.1034T>A (p.Leu345Gln) rs878853336
NM_002905.5(RDH5):c.536A>G (p.Lys179Arg) rs781112960
NM_006017.3(PROM1):c.1141+5G>C rs878853402
NM_006017.3(PROM1):c.694+1G>A rs878853399
NM_006204.4(PDE6C):c.1892A>G (p.Glu631Gly) rs878853345
NM_006204.4(PDE6C):c.1894A>T (p.Arg632Trp) rs878853346
NM_006343.3(MERTK):c.1866G>C (p.Lys622Asn) rs775460185
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006445.4(PRPF8):c.6470T>A (p.Val2157Glu) rs878853388
NM_006915.3(RP2):c.260_268del (p.Thr87_Cys89del) rs878853380
NM_012193.4(FZD4):c.961G>A (p.Val321Ile) rs878853344
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014249.4(NR2E3):c.191G>T (p.Cys64Phe) rs878853395
NM_015629.4(PRPF31):c.121C>G (p.Leu41Val) rs878853332
NM_015629.4(PRPF31):c.341T>A (p.Ile114Asn) rs878853330
NM_015629.4(PRPF31):c.916G>A (p.Asp306Asn) rs878853333
NM_018418.5(SPATA7):c.1241_1252del (p.Val414_Val417del) rs878853386
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_152443.3(RDH12):c.383T>G (p.Val128Gly) rs878853340
NM_152443.3(RDH12):c.848+2T>C rs878853338
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg) rs878853339
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp) rs878853365
NM_201253.3(CRB1):c.2843-1G>A rs878853368
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.4251+1G>A rs878853405
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr) rs878853403
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6326-1G>A rs878853411
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182

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