ClinVar Miner

List of variants reported as pathogenic for Cone-rod dystrophy

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660 0.00005
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp) rs759408031 0.00002
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5312+1G>A rs886044750 0.00001
NM_000554.6(CRX):c.121C>T (p.Arg41Trp) rs104894672 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_001386393.1(PANK2):c.987del (p.Arg330fs) rs544616523 0.00001
NM_003816.3(ADAM9):c.1455C>A (p.Tyr485Ter) rs1588391640 0.00001
NM_003816.3(ADAM9):c.490C>T (p.Arg164Ter) rs137853041 0.00001
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) rs886037880 0.00001
NM_006017.3(PROM1):c.1984-1G>T rs373680665 0.00001
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter) rs1439202144 0.00001
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) rs751644763 0.00001
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter) rs761991624 0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NC_000012.12:g.1839550_1875411del
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del) rs61755786
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs) rs1662507319
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=) rs778456901
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter) rs1282472315
NM_000350.3(ABCA4):c.4895dup (p.Asn1632fs) rs1571257937
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.639del (p.Phe213fs) rs1662213462
NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter) rs398123044
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs) rs1667508280
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter) rs1572829866
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001042432.2(CLN3):c.1197+2T>A rs2046020472
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301
NM_001256789.3(CACNA1F):c.1015-2A>G rs1602653110
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001256789.3(CACNA1F):c.946TTC[2] (p.Phe318del) rs1557110499
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs) rs1827340429
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter) rs1426009756
NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly) rs1768016995
NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala) rs1554186472
NM_002900.3(RBP3):c.3379C>T (p.Gln1127Ter) rs1588865728
NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln) rs1799652893
NM_003816.3(ADAM9):c.17_18del (p.Arg6fs)
NM_003816.3(ADAM9):c.411-8A>G rs786205086
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006017.3(PROM1):c.2211+1G>A rs1719285721
NM_006017.3(PROM1):c.2281-20_2281-11del rs886037881
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) rs368213921
NM_006017.3(PROM1):c.869del (p.Ser290fs) rs1355802816
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_014249.4(NR2E3):c.724_725del (p.Ser242fs) rs750740765
NM_015072.5(TTLL5):c.1586_1589del (p.Glu529fs) rs587777469
NM_015072.5(TTLL5):c.741-1G>A rs1887576038
NM_016247.4(IMPG2):c.829-2A>T
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_022787.3(NMNAT1):c.[53A>G];[769G>A]
NM_033100.4(CDHR1):c.1381C>T (p.Gln461Ter) rs1589306127
NM_033100.4(CDHR1):c.1485+2T>G rs767366723
NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)del
NM_172240.3(POC1B):c.560+2T>G rs1882924778
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp) rs1201433512
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_201548.5(CERKL):c.541_542delinsTT (p.Glu181Leu) rs1689012192
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557

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