ClinVar Miner

List of variants reported as pathogenic by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met) rs569364202 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_001252024.2(TRPM1):c.3017G>A (p.Arg1006His) rs775810789 0.00003
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.325G>A (p.Gly109Arg) rs1415160298 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_001023570.4(IQCB1):c.488-1G>A rs779696701 0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_032119.4(ADGRV1):c.13232-1G>A rs764583867 0.00001
NM_152384.3(BBS5):c.2T>A (p.Met1Lys) rs767822498 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) rs201866631 0.00001
NM_206933.4(USH2A):c.12067-1G>A rs397517977 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NC_000001.11:g.(215728385_215741374)_(215759844_215766680)dup
NC_000015.10:g.(?_31001061)_(31161273_?)del
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs) rs782077721
NM_000260.4(MYO7A):c.4996_4997del (p.Ser1666fs) rs1591467894
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000431.4(MVK):c.630G>A (p.Trp210Ter) rs1593021917
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) rs104893778
NM_000539.3(RHO):c.1040del (p.Pro347fs) rs2084801618
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) rs1578278438
NM_000539.3(RHO):c.341G>A (p.Gly114Asp) rs104893788
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) rs104893786
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) rs2084776162
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) rs104893779
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) rs104893781
NM_000539.3(RHO):c.886A>G (p.Lys296Glu) rs29001653
NM_000539.3(RHO):c.888G>C (p.Lys296Asn) rs2084793009
NM_001034853.2(RPGR):c.1928C>G (p.Ser643Ter) rs869312185
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8816G>C (p.Cys2939Ser) rs1582139965
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) rs1574385431
NM_001377295.2(GNAT2):c.605G>A (p.Gly202Glu) rs1570562309
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_004523.4(KIF11):c.478_479del (p.Leu160fs) rs1589591659
NM_004698.4(PRPF3):c.1285G>T (p.Asp429Tyr) rs1572263404
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) rs137853005
NM_006343.2:c.-8163_c.1145-1213del
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754
NM_021728.4(OTX2):c.811del (p.Thr271fs) rs1594952007
NM_032119.4(ADGRV1):c.6962_6963del (p.Val2321fs) rs1276890742
NM_032119.4(ADGRV1):c.9748+2T>C rs1580864592
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs) rs1588038825
NM_152564.5(VPS13B):c.6046+1G>C rs750003804
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs) rs771308343
NM_174878.3(CLRN1):c.65T>A (p.Leu22His) rs1576651623
NM_176824.3(BBS7):c.500_501insTATGAG (p.Cys167_Gln168insMetSer) rs1578564877
NM_206933.4(USH2A):c.11699A>G (p.Tyr3900Cys) rs1386612395
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.4474G>T (p.Glu1492Ter) rs869312179
NM_206933.4(USH2A):c.6657+1G>A rs1571876788

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