ClinVar Miner

List of variants reported as uncertain significance for retinal disorder by Mendelics

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356 0.02010
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00124
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026 0.00061
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln) rs192912733 0.00034
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) rs200507858 0.00022
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637 0.00011
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073 0.00010
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394 0.00006
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr) rs377043137 0.00003
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln) rs772328631 0.00003
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) rs188568530 0.00002
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786 0.00002
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) rs556201144 0.00001
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser) rs1481212897 0.00001
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu) rs1348186141 0.00001
NM_033100.4(CDHR1):c.862+4A>C rs1352559639 0.00001
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.2999G>A (p.Gly1000Glu) rs1598151461
NM_000321.3(RB1):c.1016A>G (p.His339Arg) rs1566194383
NM_000321.3(RB1):c.1031A>G (p.Gln344Arg) rs1566194400
NM_000321.3(RB1):c.124C>G (p.Leu42Val) rs1312883856
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly) rs398123331
NM_000321.3(RB1):c.1695+30614_1695+30615insTTTTTTTT rs1370123231
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser) rs1566235448
NM_000321.3(RB1):c.2441A>G (p.Lys814Arg) rs1566237785
NM_000321.3(RB1):c.607G>C (p.Gly203Arg) rs1012377281
NM_000321.3(RB1):c.611_612insTTTTTT (p.Glu204delinsAspPheLeu) rs1593443469
NM_000321.3(RB1):c.940G>T (p.Val314Phe) rs1566194312
NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del) rs1570367367
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro) rs1366653130
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro) rs1603234322
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser) rs1006593304
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val) rs1595595758
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met) rs368463825
NM_004698.4(PRPF3):c.-48-2A>T rs782747350
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) rs1035206645
NM_006915.3(RP2):c.884-14G>A rs1602354996
NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs) rs1571184566
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr) rs1037019727
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu) rs1477839027
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs) rs587783021
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn) rs78870822
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe) rs1589309412
NM_033100.4(CDHR1):c.348+5G>T rs1412093692
NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser) rs779716988
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690

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