ClinVar Miner

List of variants reported as likely pathogenic by Institute of Medical Molecular Genetics, University of Zurich

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ClinVar version:
Total variants: 161
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HGVS dbSNP
NC_000009.11:g.2716981_2787016del
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000180.4(GUCY2D):c.929C>A (p.Thr310Asn)
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783
NM_000322.5(PRPH2):c.512T>G (p.Phe171Cys)
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu)
NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val) rs61755767
NM_000328.3(RPGR):c.1905+103_1905+112del
NM_000328.3(RPGR):c.1905+521_1905+522del rs730882261
NM_000328.3(RPGR):c.1905+681_1905+682del
NM_000328.3(RPGR):c.1905+914_1905+933dup
NM_000330.3(RS1):c.209G>A (p.Gly70Asp) rs62645895
NM_000330.3(RS1):c.304C>T (p.Arg102Trp) rs61752067
NM_000330.3(RS1):c.544C>T (p.Arg182Cys) rs61753171
NM_000330.3(RS1):c.598C>T (p.Arg200Cys) rs281865357
NM_000330.4(RS1):c.150G>A (p.Trp50Ter)
NM_000330.4(RS1):c.53-713_78+266del
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412
NM_000350.3(ABCA4):c.2160+1G>T rs61749427
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3323del (p.Arg1108fs)
NM_000350.3(ABCA4):c.3523-1G>A
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4253+43G>A rs104894321
NM_000350.3(ABCA4):c.428del (p.Pro143fs)
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142
NM_000350.3(ABCA4):c.4352+1G>A rs200967229
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys)
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.3(ABCA4):c.4609del (p.Thr1537fs)
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr) rs1085307968
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu)
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter) rs1557767754
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029
NM_000350.3(ABCA4):c.5461-6T>C
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5690_5704del (p.Gln1897_Phe1901del)
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)
NM_000350.3(ABCA4):c.571-2A>T
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs)
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val)
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp)
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6282+1G>C
NM_000350.3(ABCA4):c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis)
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys)
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu)
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)
NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs)
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.[1610G>A;5603A>T]
NM_000350.3(ABCA4):c.[2588G>C;5603A>T]
NM_000350.3(ABCA4):c.[3322C>T;6320G>A]
NM_000350.3(ABCA4):c.[52C>T;5603A>T]
NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]
NM_000554.6(CRX):c.118C>T (p.Arg40Trp)
NM_001012720.2(RGR):c.236G>A (p.Arg79Gln)
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491
NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu)
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr)
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys)
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) rs150153987
NM_001371596.2(MFSD8):c.670A>T (p.Asn224Tyr)
NM_001384910.1(GUCA1A):c.333G>C (p.Glu111Asp)
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) rs121918542
NM_004183.3(BEST1):c.884_886delTCA (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.-37+1G>T rs1555096248
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly)
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp) rs281865214
NM_004183.4(BEST1):c.907G>T (p.Asp303Tyr)
NM_006017.3(PROM1):c.1142-1G>A rs752619497
NM_006017.3(PROM1):c.2476G>C (p.Asp826His)
NM_006017.3(PROM1):c.380G>A (p.Gly127Glu)
NM_006204.4(PDE6C):c.864+1G>A rs1023522305
NM_006269.1:c.-12-1431_*286del
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006915.3(RP2):c.884-9T>A
NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His)
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1578+1G>A rs372006750
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs)
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) rs104893946
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs)
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)
NM_133497.4(KCNV2):c.1096del (p.Val366fs)
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_152778.3(MFSD8):c.754+2T>A rs587778809
NM_178857.6(RP1L1):c.1024_1026delinsCTCCT (p.Arg342fs)
NM_178857.6(RP1L1):c.196G>C (p.Asp66His)
NM_201253.3(CRB1):c.1472A>T (p.Asp491Val)
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654
NM_201253.3(CRB1):c.2298G>A (p.Trp766Ter)
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser)
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187

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