List of variants in gene CRB1 studied for Retinal dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 140

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)	rs62636287	0.00208
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	rs116471343	0.00096
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg)	rs142090517	0.00045
NM_201253.3(CRB1):c.1428C>T (p.Thr476=)	rs62636282	0.00025
NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	rs150412614	0.00025
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)	rs115400822	0.00021
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)	rs142857810	0.00019
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)	rs114846212	0.00014
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	rs137853137	0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	rs62645748	0.00013
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)	rs114052315	0.00011
NM_201253.3(CRB1):c.1189G>C (p.Asp397His)	rs114264441	0.00009
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)	rs114630940	0.00009
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser)	rs138667698	0.00009
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)	rs62636264	0.00007
NM_201253.3(CRB1):c.1182C>T (p.Cys394=)	rs115352681	0.00006
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	rs764256655	0.00006
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=)	rs780576185	0.00005
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu)	rs148551147	0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)	rs62636273	0.00004
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)	rs767648174	0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)	rs62636275	0.00003
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)	rs763111500	0.00002
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu)	rs267598278	0.00002
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)	rs145282040	0.00002
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)	rs760544654	0.00002
NM_201253.3(CRB1):c.629G>T (p.Cys210Phe)	rs972802394	0.00002
NM_201253.3(CRB1):c.867G>A (p.Thr289=)	rs147244321	0.00002
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)	rs114342808	0.00001
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)	rs750442312	0.00001
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser)	rs1457623741	0.00001
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)	rs1451348539	0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)	rs749746650	0.00001
NM_201253.3(CRB1):c.2842+5G>A	rs773914330	0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe)	rs878853367	0.00001
NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter)	rs1426006136	0.00001
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr)	rs752329622	0.00001
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr)	rs62635656	0.00001
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro)	rs62636276	0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)	rs137853136	0.00001
NM_201253.3(CRB1):c.4006-10A>G	rs766850702	0.00001
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg)	rs1658691162	0.00001
NM_201253.3(CRB1):c.653-1G>T	rs760287363	0.00001
NM_201253.3(CRB1):c.872G>A (p.Ser291Asn)	rs1374962600	0.00001
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser)	rs911156007	0.00001
NM_201253.3(CRB1):c.976C>T (p.His326Tyr)	rs773386179	0.00001
NM_201253.3(CRB1):c.-2C>G
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg)	rs878853370
NM_201253.3(CRB1):c.1042T>C (p.Cys348Arg)	rs2125354412
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys)	rs116347915
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro)	rs1660514556
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter)	rs1660515780
NM_201253.3(CRB1):c.1181G>A (p.Cys394Tyr)	rs1664277152
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter)	rs369775002
NM_201253.3(CRB1):c.1225G>A (p.Gly409Ser)
NM_201253.3(CRB1):c.1229G>A (p.Gly410Asp)	rs2125468954
NM_201253.3(CRB1):c.1253del (p.Asn418fs)
NM_201253.3(CRB1):c.1319A>T (p.Asp440Val)
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg)	rs1664290387
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	rs866822473
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro)	rs963201816
NM_201253.3(CRB1):c.145dup (p.Ser49fs)
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs)	rs878853364
NM_201253.3(CRB1):c.1640A>C (p.Gln547Pro)	rs1167933684
NM_201253.3(CRB1):c.1656A>G (p.Ser552=)
NM_201253.3(CRB1):c.1672A>T (p.Ile558Phe)
NM_201253.3(CRB1):c.1689del (p.Ser563fs)
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala)	rs773233587
NM_201253.3(CRB1):c.1729G>A (p.Ala577Thr)
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr)	rs1471328495
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs)	rs1664325377
NM_201253.3(CRB1):c.201_202del (p.Cys67_Asp68delinsTer)	rs1658656722
NM_201253.3(CRB1):c.2092T>C (p.Cys698Arg)	rs1185924666
NM_201253.3(CRB1):c.2138C>T (p.Ala713Val)	rs1664643556
NM_201253.3(CRB1):c.2209A>G (p.Ile737Val)
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter)	rs150412614
NM_201253.3(CRB1):c.2236C>G (p.Leu746Val)
NM_201253.3(CRB1):c.2294T>C (p.Val765Ala)	rs1272516105
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp)	rs878853365
NM_201253.3(CRB1):c.2363T>C (p.Leu788Pro)
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)	rs1433518605
NM_201253.3(CRB1):c.2416G>C (p.Glu806Gln)
NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter)	rs766411096
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg)	rs1664671663
NM_201253.3(CRB1):c.2521A>C (p.Thr841Pro)	rs1013704098
NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr)	rs1553249226
NM_201253.3(CRB1):c.2598A>C (p.Pro866=)
NM_201253.3(CRB1):c.2632C>T (p.Leu878Phe)	rs779370684
NM_201253.3(CRB1):c.2671T>C (p.Cys891Arg)	rs62635658
NM_201253.3(CRB1):c.2676+1G>T	rs1664686689
NM_201253.3(CRB1):c.2677-446T>C
NM_201253.3(CRB1):c.2677-471A>G
NM_201253.3(CRB1):c.2711C>G (p.Ser904Cys)
NM_201253.3(CRB1):c.278G>C (p.Ser93Thr)
NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu)
NM_201253.3(CRB1):c.2834G>A (p.Gly945Glu)	rs762685645
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	rs62645747
NM_201253.3(CRB1):c.2843-1G>A	rs878853368
NM_201253.3(CRB1):c.2843G>C (p.Cys948Ser)
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter)	rs878853371
NM_201253.3(CRB1):c.2956A>T (p.Asn986Tyr)	rs1665048722
NM_201253.3(CRB1):c.2972A>T (p.His991Leu)
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)	rs369184026
NM_201253.3(CRB1):c.3068T>G (p.Leu1023Arg)
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)	rs62636274
NM_201253.3(CRB1):c.3080A>T (p.Gln1027Leu)
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg)	rs1665062132
NM_201253.3(CRB1):c.3146C>G (p.Ser1049Cys)
NM_201253.3(CRB1):c.3213C>T (p.Leu1071=)	rs2125499764
NM_201253.3(CRB1):c.3239T>C (p.Ile1080Thr)	rs770192349
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=)	rs535494663
NM_201253.3(CRB1):c.329C>T (p.Thr110Ile)
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter)	rs1558138741
NM_201253.3(CRB1):c.3506G>A (p.Trp1169Ter)	rs1665100409
NM_201253.3(CRB1):c.3522_3523del (p.Cys1174_Glu1175delinsTer)	rs1665102146
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs)	rs1553263218
NM_201253.3(CRB1):c.3652T>G (p.Cys1218Gly)
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe)	rs1450635782
NM_201253.3(CRB1):c.3710C>T (p.Ser1237Phe)
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr)	rs1665279435
NM_201253.3(CRB1):c.3878+2dup	rs1665282720
NM_201253.3(CRB1):c.3880T>C (p.Cys1294Arg)	rs1665477273
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)	rs1057520152
NM_201253.3(CRB1):c.4029C>T (p.Asp1343=)	rs780087216
NM_201253.3(CRB1):c.4159G>T (p.Glu1387Ter)	rs878853369
NM_201253.3(CRB1):c.434G>C (p.Cys145Ser)
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)	rs1571848744
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615
NM_201253.3(CRB1):c.506del (p.Gly169fs)	rs1167867158
NM_201253.3(CRB1):c.586A>G (p.Lys196Glu)
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752
NM_201253.3(CRB1):c.652+3_652+6del	rs1658700284
NM_201253.3(CRB1):c.71del (p.Asn24fs)	rs1654722914
NM_201253.3(CRB1):c.757G>A (p.Gly253Arg)
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)	rs1659650891
NM_201253.3(CRB1):c.807dup (p.Pro270fs)	rs878853366
NM_201253.3(CRB1):c.84dup (p.Lys29Ter)

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