List of variants in gene GDF6 reported as uncertain significance for Leber congenital amaurosis 17

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 159

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HGVS	dbSNP	gnomAD frequency
NM_001001557.4(GDF6):c.574C>T (p.Leu192Phe)	rs565877093	0.00019
NM_001001557.4(GDF6):c.878T>C (p.Met293Thr)	rs762304422	0.00014
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	rs397514725	0.00006
NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys)	rs752600101	0.00005
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr)	rs387906794	0.00005
NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro)	rs749337343	0.00004
NM_001001557.4(GDF6):c.1282A>G (p.Ile428Val)	rs144578143	0.00004
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro)	rs375108591	0.00004
NM_001001557.4(GDF6):c.40A>G (p.Ile14Val)	rs773668867	0.00004
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly)	rs886043381	0.00004
NM_001001557.4(GDF6):c.857G>A (p.Arg286His)	rs764553577	0.00004
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg)	rs121909353	0.00003
NM_001001557.4(GDF6):c.418C>G (p.His140Asp)	rs370351474	0.00003
NM_001001557.4(GDF6):c.544G>C (p.Gly182Arg)	rs767572263	0.00003
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu)	rs886063208	0.00003
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn)	rs747899927	0.00003
NM_001001557.4(GDF6):c.809G>A (p.Arg270Gln)	rs781155701	0.00003
NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser)	rs766458579	0.00002
NM_001001557.4(GDF6):c.703G>A (p.Ala235Thr)	rs1262253139	0.00002
NM_001001557.4(GDF6):c.728G>T (p.Gly243Val)	rs772188117	0.00002
NM_001001557.4(GDF6):c.964G>A (p.Ala322Thr)	rs200317462	0.00002
NM_001001557.4(GDF6):c.1106A>G (p.Asp369Gly)	rs774573217	0.00001
NM_001001557.4(GDF6):c.1237G>A (p.Gly413Ser)	rs984197099	0.00001
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser)	rs376427985	0.00001
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser)	rs1040541530	0.00001
NM_001001557.4(GDF6):c.224C>G (p.Pro75Arg)	rs1378920942	0.00001
NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys)	rs1204502085	0.00001
NM_001001557.4(GDF6):c.401G>A (p.Gly134Glu)	rs966679733	0.00001
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu)	rs1812463539	0.00001
NM_001001557.4(GDF6):c.554A>C (p.His185Pro)	rs763275206	0.00001
NM_001001557.4(GDF6):c.647A>G (p.Asp216Gly)	rs1812457627	0.00001
NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu)	rs765707228	0.00001
NM_001001557.4(GDF6):c.764C>T (p.Pro255Leu)	rs762654952	0.00001
NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu)	rs760516509	0.00001
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu)	rs761634996	0.00001
NM_001001557.4(GDF6):c.954C>T (p.Gly318=)	rs1277401260	0.00001
NM_001001557.4(GDF6):c.1001G>A (p.Arg334Gln)
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly)	rs1812445134
NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro)	rs2130238372
NM_001001557.4(GDF6):c.1012T>C (p.Phe338Leu)
NM_001001557.4(GDF6):c.1022G>A (p.Arg341His)	rs764936321
NM_001001557.4(GDF6):c.1025A>G (p.His342Arg)
NM_001001557.4(GDF6):c.106G>A (p.Glu36Lys)
NM_001001557.4(GDF6):c.1080C>A (p.His360Gln)	rs1812443639
NM_001001557.4(GDF6):c.1081G>A (p.Val361Met)	rs771878776
NM_001001557.4(GDF6):c.1094A>C (p.Glu365Ala)
NM_001001557.4(GDF6):c.1099G>A (p.Gly367Ser)	rs745989382
NM_001001557.4(GDF6):c.10C>T (p.Pro4Ser)	rs1812746374
NM_001001557.4(GDF6):c.1144C>T (p.His382Tyr)	rs2130205366
NM_001001557.4(GDF6):c.1145A>T (p.His382Leu)
NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu)	rs926947319
NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile)
NM_001001557.4(GDF6):c.1214C>T (p.Thr405Met)
NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg)	rs1812440547
NM_001001557.4(GDF6):c.122A>G (p.Lys41Arg)
NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile)	rs1269055850
NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile)	rs769886732
NM_001001557.4(GDF6):c.1306G>A (p.Gly436Ser)	rs1352200590
NM_001001557.4(GDF6):c.131_132delinsTT (p.Arg44Leu)
NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln)	rs1331641099
NM_001001557.4(GDF6):c.1357G>A (p.Gly453Ser)	rs1178158158
NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys)
NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln)
NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp)
NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln)
NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu)
NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu)
NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr)	rs1040541530
NM_001001557.4(GDF6):c.227G>A (p.Arg76Gln)
NM_001001557.4(GDF6):c.229G>C (p.Ala77Pro)
NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu)	rs2130237859
NM_001001557.4(GDF6):c.245C>A (p.Ala82Glu)
NM_001001557.4(GDF6):c.251A>G (p.Glu84Gly)
NM_001001557.4(GDF6):c.268C>T (p.Pro90Ser)
NM_001001557.4(GDF6):c.26C>T (p.Ser9Leu)
NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro)	rs768741148
NM_001001557.4(GDF6):c.283C>T (p.His95Tyr)	rs2130237638
NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln)
NM_001001557.4(GDF6):c.298T>C (p.Ser100Pro)	rs2130237604
NM_001001557.4(GDF6):c.301A>G (p.Ile101Val)
NM_001001557.4(GDF6):c.316T>A (p.Ser106Thr)	rs751465124
NM_001001557.4(GDF6):c.31G>A (p.Val11Ile)	rs1812745847
NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp)	rs1812739209
NM_001001557.4(GDF6):c.332T>G (p.Leu111Arg)
NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg)
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe)	rs772435568
NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr)	rs2130237421
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met)	rs536331514
NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro)	rs2130208544
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro)	rs1812463179
NM_001001557.4(GDF6):c.449T>C (p.Phe150Ser)
NM_001001557.4(GDF6):c.454G>A (p.Val152Met)
NM_001001557.4(GDF6):c.457T>C (p.Ser153Pro)	rs1470026888
NM_001001557.4(GDF6):c.457_458delinsAA (p.Ser153Asn)	rs2130208395
NM_001001557.4(GDF6):c.460A>C (p.Met154Leu)	rs766667262
NM_001001557.4(GDF6):c.460A>G (p.Met154Val)	rs766667262
NM_001001557.4(GDF6):c.461T>C (p.Met154Thr)
NM_001001557.4(GDF6):c.481C>G (p.Leu161Val)	rs958381615
NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr)
NM_001001557.4(GDF6):c.544G>A (p.Gly182Arg)
NM_001001557.4(GDF6):c.581C>A (p.Pro194His)
NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)
NM_001001557.4(GDF6):c.607G>T (p.Asp203Tyr)
NM_001001557.4(GDF6):c.60G>T (p.Leu20Phe)
NM_001001557.4(GDF6):c.611C>A (p.Pro204Gln)
NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu)	rs999492360
NM_001001557.4(GDF6):c.616G>A (p.Gly206Arg)
NM_001001557.4(GDF6):c.616G>C (p.Gly206Arg)
NM_001001557.4(GDF6):c.619G>A (p.Ala207Thr)	rs2130207705
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu)	rs903826881
NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser)
NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser)	rs552234954
NM_001001557.4(GDF6):c.631G>C (p.Gly211Arg)
NM_001001557.4(GDF6):c.643T>C (p.Phe215Leu)	rs2130207617
NM_001001557.4(GDF6):c.682C>T (p.Gln228Ter)
NM_001001557.4(GDF6):c.684G>C (p.Gln228His)	rs1006833447
NM_001001557.4(GDF6):c.706G>T (p.Ala236Ser)	rs933957352
NM_001001557.4(GDF6):c.707C>T (p.Ala236Val)	rs781041300
NM_001001557.4(GDF6):c.715G>A (p.Glu239Lys)
NM_001001557.4(GDF6):c.719T>C (p.Leu240Pro)
NM_001001557.4(GDF6):c.724G>C (p.Ala242Pro)
NM_001001557.4(GDF6):c.725C>T (p.Ala242Val)
NM_001001557.4(GDF6):c.732G>C (p.Glu244Asp)
NM_001001557.4(GDF6):c.733G>A (p.Ala245Thr)
NM_001001557.4(GDF6):c.740C>A (p.Ala247Glu)	rs1228278989
NM_001001557.4(GDF6):c.741_742delinsAA (p.Arg248Ser)	rs2130207135
NM_001001557.4(GDF6):c.742C>T (p.Arg248Cys)	rs750809706
NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro)
NM_001001557.4(GDF6):c.755C>G (p.Pro252Arg)
NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg)	rs121909355
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu)	rs121909355
NM_001001557.4(GDF6):c.764C>A (p.Pro255Gln)
NM_001001557.4(GDF6):c.767C>T (p.Pro256Leu)
NM_001001557.4(GDF6):c.769C>T (p.Pro257Ser)
NM_001001557.4(GDF6):c.76G>C (p.Ala26Pro)
NM_001001557.4(GDF6):c.773C>G (p.Pro258Arg)
NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp)	rs866273025
NM_001001557.4(GDF6):c.818A>G (p.Gln273Arg)
NM_001001557.4(GDF6):c.827C>G (p.Ala276Gly)
NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr)	rs2130238399
NM_001001557.4(GDF6):c.845C>G (p.Thr282Ser)
NM_001001557.4(GDF6):c.854A>T (p.Gln285Leu)	rs757715384
NM_001001557.4(GDF6):c.855G>C (p.Gln285His)
NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys)	rs1303995573
NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu)	rs765928590
NM_001001557.4(GDF6):c.880C>G (p.Arg294Gly)
NM_001001557.4(GDF6):c.881G>A (p.Arg294His)	rs2130206472
NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys)	rs1451309614
NM_001001557.4(GDF6):c.914C>A (p.Pro305Gln)
NM_001001557.4(GDF6):c.920C>T (p.Ala307Val)
NM_001001557.4(GDF6):c.931G>A (p.Gly311Arg)	rs1812447441
NM_001001557.4(GDF6):c.932G>A (p.Gly311Glu)
NM_001001557.4(GDF6):c.946C>A (p.Pro316Thr)
NM_001001557.4(GDF6):c.950C>G (p.Ser317Trp)
NM_001001557.4(GDF6):c.950C>T (p.Ser317Leu)
NM_001001557.4(GDF6):c.958C>G (p.Pro320Ala)
NM_001001557.4(GDF6):c.962A>G (p.Asp321Gly)	rs376698111
NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln)
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup)	rs762461479

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