ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Ocular Genomics Institute, Massachusetts Eye and Ear and "pathogenic" from any submitter

Minimum review status of the submission from Ocular Genomics Institute, Massachusetts Eye and Ear: Collection method of the submission from Ocular Genomics Institute, Massachusetts Eye and Ear:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 61
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HGVS dbSNP gnomAD frequency
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_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_201548.5(CERKL):c.222del (p.Gln74fs) rs1476585944 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter) rs778571042 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser) rs1254637647 0.00001
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) rs121918590
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs) rs1555211286
NM_003322.6(TULP1):c.99+1G>A rs281865166
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_015629.4(PRPF31):c.527+3A>G rs587776590
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.4251+1G>T rs878853405

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