ClinVar Miner

List of variants in gene CRB1 reported as uncertain significance for not provided

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) rs62636283 0.00064
NM_201253.3(CRB1):c.3750-3T>C rs187937543 0.00063
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) rs140648074 0.00044
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro) rs201609001 0.00029
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val) rs111761880 0.00011
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr) rs114630940 0.00009
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) rs937362854 0.00006
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) rs148240351 0.00005
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_201253.3(CRB1):c.893G>C (p.Cys298Ser) rs978443271 0.00003
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr) rs757381371 0.00001
NM_201253.3(CRB1):c.2677-343G>A rs760861776 0.00001
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) rs115649214 0.00001
NM_201253.3(CRB1):c.3613G>A (p.Gly1205Arg) rs574742644 0.00001
NM_201253.3(CRB1):c.3878+10A>G rs886043311 0.00001
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn) rs1452822430 0.00001
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) rs1064797127
NM_201253.3(CRB1):c.104T>C (p.Leu35Pro) rs1158559936
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) rs751691851
NM_201253.3(CRB1):c.1298A>G (p.Tyr433Cys) rs62636288
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) rs1571522690
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) rs1553260314
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg) rs886043472
NM_201253.3(CRB1):c.1708G>A (p.Val570Met) rs754482666
NM_201253.3(CRB1):c.1793C>T (p.Pro598Leu) rs1314024688
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) rs1238001290
NM_201253.3(CRB1):c.1914G>T (p.Ser638=) rs780682072
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2123T>A (p.Leu708Gln)
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) rs201700675
NM_201253.3(CRB1):c.2327C>A (p.Thr776Asn) rs1293863321
NM_201253.3(CRB1):c.2486T>A (p.Val829Asp) rs1664670946
NM_201253.3(CRB1):c.2560G>C (p.Asp854His) rs1553261618
NM_201253.3(CRB1):c.2596C>A (p.Pro866Thr)
NM_201253.3(CRB1):c.2842+33T>G
NM_201253.3(CRB1):c.2970_2971delinsTT (p.Leu990_His991delinsPheTyr) rs2125499076
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe) rs910299744
NM_201253.3(CRB1):c.3038A>C (p.Gln1013Pro) rs886043310
NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro) rs1553262957
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128
NM_201253.3(CRB1):c.3086T>C (p.Val1029Ala) rs1064797128
NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn) rs2125499421
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr) rs727503889
NM_201253.3(CRB1):c.3211C>T (p.Leu1071Phe) rs398124614
NM_201253.3(CRB1):c.3275G>A (p.Gly1092Asp)
NM_201253.3(CRB1):c.3400G>C (p.Val1134Leu) rs1045224692
NM_201253.3(CRB1):c.3511G>T (p.Gly1171Trp)
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) rs794727317
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly) rs1658671611
NM_201253.3(CRB1):c.3791C>A (p.Thr1264Lys) rs1284147743
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly)
NM_201253.3(CRB1):c.3871G>A (p.Gly1291Arg)
NM_201253.3(CRB1):c.3893T>C (p.Ile1298Thr) rs794727039
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn) rs1667262233
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) rs1064797126
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.529G>C (p.Gly177Arg) rs1571849059
NM_201253.3(CRB1):c.862T>A (p.Cys288Ser) rs1571877872

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