ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg: Collection method of the submission from Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 118
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter) rs541717028 0.00004
NM_152384.3(BBS5):c.619-1G>C rs753234582 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter) rs121965057 0.00003
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_018474.6(KIZ):c.583C>T (p.Arg195Ter) rs775124094 0.00002
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544 0.00002
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 0.00001
NM_000350.3(ABCA4):c.3329-1G>A rs544428779 0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428 0.00001
NM_000350.3(ABCA4):c.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5018+2T>C rs61750562 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_003322.6(TULP1):c.1318C>T (p.Arg440Ter) rs751589956 0.00001
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu) rs980876322 0.00001
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) rs75895925 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000274.4(OAT):c.1014+1G>A rs1951414426
NM_000322.5(PRPH2):c.581+1G>A rs1761904690
NM_000322.5(PRPH2):c.589A>G (p.Lys197Glu) rs62645931
NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg) rs61755806
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.726-2A>T rs878853372
NM_000330.4(RS1):c.176G>A (p.Cys59Tyr) rs1928220547
NM_000330.4(RS1):c.337C>T (p.Leu113Phe) rs61752145
NM_000330.4(RS1):c.655T>C (p.Cys219Arg) rs281865369
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) rs1057518955
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.6005+1G>T rs61748517
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000390.4(CHM):c.1334C>A (p.Ser445Ter)
NM_000390.4(CHM):c.653C>G (p.Ser218Ter) rs1930414140
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
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.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.68C>T (p.Pro23Leu) rs104893768
NM_001034853.2(RPGR):c.2106G>A (p.Trp702Ter) rs2067193056
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs) rs1555961852
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2409del (p.Arg804fs) rs2067182990
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001122769.3(LCA5):c.633_639del (p.Glu211fs) rs878853382
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001278431.2(C1QTNF5):c.489C>A (p.Ser163Arg) rs111033578
NM_001297.5(CNGB1):c.1958-1G>A rs888090139
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter) rs1210263161
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) rs1365926616
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg) rs281865244
NM_004727.3(SLC24A1):c.1132_1133del (p.Ser378fs) rs1566947860
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) rs746174328
NM_006017.3(PROM1):c.1697del (p.Asn566fs) rs762078182
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1231_1232del (p.Gln411fs)
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_016247.4(IMPG2):c.1578_1581del (p.Ser527fs) rs1559643320
NM_016247.4(IMPG2):c.2440C>T (p.Gln814Ter) rs1706439944
NM_016247.4(IMPG2):c.68dup (p.Asp23fs) rs768660614
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_201253.3(CRB1):c.652+1G>A rs2125304900
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs) rs886041502

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