List of variants reported as uncertain significance for pigmented paravenous retinochoroidal atrophy by Genome-Nilou Lab

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 71

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)	rs145141811	0.00035
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala)	rs144029476	0.00022
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr)	rs200469148	0.00019
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)	rs779451259	0.00011
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val)	rs111761880	0.00011
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser)	rs138667698	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.2035C>G (p.Gln679Glu)	rs62636286	0.00004
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)	rs530046423	0.00004
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala)	rs886045787	0.00004
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg)	rs776191501	0.00004
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile)	rs201893755	0.00003
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met)	rs201349525	0.00003
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser)	rs557111131	0.00002
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro)	rs1254919944	0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)	rs375590765	0.00001
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu)	rs769859765	0.00001
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser)	rs1457623741	0.00001
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr)	rs757381371	0.00001
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu)	rs886045784	0.00001
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala)	rs772386967	0.00001
NM_201253.3(CRB1):c.2677-343G>A	rs760861776	0.00001
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp)	rs749366098	0.00001
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys)	rs62635655	0.00001
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr)	rs752329622	0.00001
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys)	rs115649214	0.00001
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His)	rs746774206	0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)	rs1665481687	0.00001
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe)	rs1658699227	0.00001
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn)	rs1452822430	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.1023T>A (p.Asn341Lys)	rs1064797127
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro)	rs1660514556
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro)
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)	rs1571522690
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)	rs1553260314
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys)
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.1755C>A (p.Asp585Glu)	rs1034422363
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal)	rs2125471114
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu)	rs1238001290
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)	rs1204363918
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys)	rs1009552469
NM_201253.3(CRB1):c.2489T>A (p.Ile830Asn)	rs2125484835
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly)
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg)
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)	rs574162883
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu)	rs2125499116
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe)	rs910299744
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg)	rs1665062132
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe)	rs1665065652
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn)	rs1452661857
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys)	rs794727317
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn)
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly)	rs1658671611
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln)	rs376271122
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn)	rs886045783
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg)
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr)	rs1665279435
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln)
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn)	rs1667262233
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg)
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)	rs765740058
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr)	rs767920858
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)	rs1658699227
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)	rs1659650891
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg)	rs1571877872

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