ClinVar Miner

List of variants reported as likely pathogenic for perceptual disorders by 3billion, Medical Genetics

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000180.4(GUCY2D):c.935C>T (p.Thr312Met) rs61749673 0.00003
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000326.5(RLBP1):c.25C>T (p.Arg9Cys) rs775252439 0.00003
NM_001004334.4(GPR179):c.4550dup (p.Met1517fs) rs756928373 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_152443.3(RDH12):c.697G>C (p.Val233Leu) rs140257538 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_000322.5(PRPH2):c.625G>A (p.Val209Ile) rs753657349 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn) rs527236088 0.00001
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) rs137853290 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr) rs61750575 0.00001
NM_000554.6(CRX):c.118C>T (p.Arg40Trp) rs749738655 0.00001
NM_001142800.2(EYS):c.6191+1G>A rs1048032321 0.00001
NM_001292063.2(OTOG):c.3682+1G>A rs554063575 0.00001
NM_002905.5(RDH5):c.394G>A (p.Val132Met) rs62638187 0.00001
NM_002906.4(RDX):c.1135C>T (p.Arg379Ter) rs772146113 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_004727.3(SLC24A1):c.2884-1G>C rs766014688 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_031475.3(ESPN):c.2524C>T (p.Arg842Ter) rs1644131579 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_138691.3(TMC1):c.564C>A (p.Tyr188Ter) rs1178631956 0.00001
NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu) rs553635114 0.00001
NM_000180.4(GUCY2D):c.1012del (p.Leu338fs)
NM_000180.4(GUCY2D):c.2006C>G (p.Ser669Ter) rs2151802518
NM_000180.4(GUCY2D):c.835G>A (p.Asp279Asn) rs1478566225
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) rs61755794
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) rs786205626
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1451-1G>A rs1317871521
NM_000330.4(RS1):c.101dup (p.Tyr34Ter)
NM_000330.4(RS1):c.131dup (p.Gly45fs) rs2147203103
NM_000330.4(RS1):c.184+1G>A
NM_000330.4(RS1):c.327-14_410del rs2147191292
NM_000330.4(RS1):c.455del (p.Ser152fs)
NM_000330.4(RS1):c.488G>A (p.Trp163Ter) rs2147191142
NM_000330.4(RS1):c.531T>G (p.Tyr177Ter) rs2147189125
NM_000350.3(ABCA4):c.3540del (p.Ser1181fs) rs2101047075
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg) rs886044752
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
NM_000390.4(CHM):c.309T>A (p.Tyr103Ter) rs897855683
NM_000390.4(CHM):c.386del (p.Asn129fs)
NM_000441.2(SLC26A4):c.1586T>C (p.Ile529Thr) rs786204739
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val) rs756272252
NM_000441.2(SLC26A4):c.617T>A (p.Leu206Ter) rs2129311933
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) rs104893796
NM_000539.3(RHO):c.851G>A (p.Gly284Asp) rs2084791045
NM_000554.6(CRX):c.533_545dup (p.Gly183fs) rs2123743219
NM_001001331.4(ATP2B2):c.945dup (p.Asp316fs)
NM_001029883.3(PCARE):c.3048_3049del (p.Tyr1016_Arg1017delinsTer)
NM_001034853.2(RPGR):c.2237_2238del (p.Glu746fs) rs2147199015
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter) rs267606453
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_001039141.3(TRIOBP):c.1855del (p.Ala619fs) rs2145833313
NM_001142800.2(EYS):c.5626C>T (p.Gln1876Ter) rs2149830904
NM_001142800.2(EYS):c.6313C>T (p.Gln2105Ter) rs1188834464
NM_001142966.3(GREB1L):c.2594T>A (p.Leu865Ter) rs2145813286
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter) rs2146025908
NM_001145308.5(LRTOMT):c.566del (p.Ile189fs)
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001199799.2(ILDR1):c.206C>A (p.Pro69His)
NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) rs778390089
NM_001256317.3(TMPRSS3):c.771C>G (p.His257Gln)
NM_001297.5(CNGB1):c.2544del (p.Leu849fs) rs760430056
NM_001298.3(CNGA3):c.778dup (p.Asp260fs) rs756172609
NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs) rs2144013371
NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs) rs2144371589
NM_001384474.1(LOXHD1):c.4877-1G>A rs1598909650
NM_001384910.1(GUCA1A):c.431A>T (p.Asp144Val) rs1768035083
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr) rs2143775617
NM_002700.3(POU4F3):c.479del (p.Gly160fs)
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter) rs1305000119
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys) rs886041142
NM_004183.4(BEST1):c.365G>C (p.Arg122Pro) rs767103810
NM_004183.4(BEST1):c.682G>C (p.Asp228His) rs267606676
NM_004183.4(BEST1):c.684C>A (p.Asp228Glu)
NM_004523.4(KIF11):c.1513_1516del (p.Glu505fs)
NM_004523.4(KIF11):c.422A>T (p.His141Leu) rs1844462612
NM_004523.4(KIF11):c.473del (p.Val158fs) rs2135902435
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) rs1578860322
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) rs797044960
NM_006017.3(PROM1):c.2209G>T (p.Glu737Ter) rs2149080351
NM_006017.3(PROM1):c.276+2T>C rs2149407830
NM_006269.2(RP1):c.2015dup (p.Lys673fs) rs2129316376
NM_006343.3(MERTK):c.56_61+15del rs2104652801
NM_014336.5(AIPL1):c.40A>G (p.Lys14Glu)
NM_014336.5(AIPL1):c.814del (p.Arg272fs) rs2150675032
NM_014336.5(AIPL1):c.963_993dup (p.Thr332fs) rs2150674258
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) rs2141540660
NM_015205.3(ATP11A):c.3044_3045del (p.Thr1015fs)
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs) rs2142244867
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter) rs1445431722
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) rs2142363190
NM_016239.4(MYO15A):c.8601+2T>G
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro) rs1189928623
NM_022124.6(CDH23):c.478del (p.Asp160fs) rs2132358279
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg) rs767343063
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter) rs1404134749
NM_144672.4(OTOA):c.1633_1634del (p.Leu545fs)
NM_148960.3(CLDN19):c.269T>G (p.Leu90Arg) rs118203981
NM_152443.3(RDH12):c.146C>A (p.Thr49Lys) rs28940314
NM_152443.3(RDH12):c.505C>G (p.Arg169Gly) rs761167763
NM_177398.4(LMX1A):c.331del (p.Gln111fs) rs2102637875
NM_178857.6(RP1L1):c.330dup (p.Lys111fs) rs770312128
NM_194248.3(OTOF):c.3179_3183dup (p.Glu1062fs) rs773708510
NM_201253.3(CRB1):c.132dup (p.Cys45fs) rs2125303667
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser) rs1664290387
NM_201253.3(CRB1):c.1459T>C (p.Ser487Pro)
NM_201253.3(CRB1):c.1604_1607dup (p.Glu536fs) rs2125470141
NM_201253.3(CRB1):c.2128+1G>A rs2125472205
NM_201253.3(CRB1):c.3070del (p.Thr1024fs) rs2125499361
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) rs62635649
NM_201548.5(CERKL):c.52_55del (p.Glu18fs) rs2105569036
NM_206933.4(USH2A):c.13018G>C (p.Gly4340Arg) rs2102665930
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826

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