List of variants in gene GJA3 reported as uncertain significance for cataract

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: 115

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HGVS	dbSNP	gnomAD frequency
NM_021954.4(GJA3):c.*2093A>C	rs1040384781	0.00031
NM_021954.4(GJA3):c.*1449C>T	rs867076363	0.00029
NM_021954.4(GJA3):c.*2311A>C	rs555846962	0.00017
NM_021954.4(GJA3):c.-41G>T	rs886050024	0.00016
NM_021954.4(GJA3):c.852C>G (p.Ala284=)	rs557677250	0.00016
NM_021954.4(GJA3):c.*1176A>C	rs886050014	0.00014
NM_021954.4(GJA3):c.*2931A>G	rs544693111	0.00014
NM_021954.4(GJA3):c.*2107T>A	rs553286295	0.00011
NM_021954.4(GJA3):c.*3509C>G	rs966696205	0.00011
NM_021954.4(GJA3):c.*2695C>T	rs774238106	0.00008
NM_021954.4(GJA3):c.1013C>T (p.Pro338Leu)	rs766975987	0.00006
NM_021954.4(GJA3):c.392C>T (p.Ser131Leu)	rs774444626	0.00006
NM_021954.4(GJA3):c.*1931G>C	rs1244045985	0.00005
NM_021954.4(GJA3):c.*532A>G	rs1169670475	0.00005
NM_021954.4(GJA3):c.*101G>A	rs886050019	0.00004
NM_021954.4(GJA3):c.*1365G>A	rs1032039343	0.00004
NM_021954.4(GJA3):c.*1841C>T	rs886050011	0.00004
NM_021954.4(GJA3):c.*1232T>C	rs886050013	0.00003
NM_021954.4(GJA3):c.*3108C>T	rs886050006	0.00003
NM_021954.4(GJA3):c.334G>C (p.Glu112Gln)	rs747097789	0.00003
NM_021954.4(GJA3):c.*1535C>T	rs1190517873	0.00002
NM_021954.4(GJA3):c.*2079A>G	rs886050010	0.00002
NM_021954.4(GJA3):c.*3609G>A	rs767584645	0.00002
NM_021954.4(GJA3):c.*2340A>G	rs1008861631	0.00001
NM_021954.4(GJA3):c.*3210A>G	rs779184721	0.00001
NM_021954.4(GJA3):c.*647G>A	rs549434985	0.00001
NM_021954.4(GJA3):c.*691G>A	rs560674293	0.00001
NM_021954.4(GJA3):c.-98G>A	rs935261635	0.00001
NM_021954.4(GJA3):c.1082C>T (p.Pro361Leu)	rs886050020	0.00001
NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp)	rs1958811300	0.00001
NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg)	rs1477019809	0.00001
NM_021954.4(GJA3):c.440G>A (p.Arg147Gln)	rs753251437	0.00001
NM_021954.4(GJA3):c.545A>G (p.Asp182Gly)	rs886050023	0.00001
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser)	rs140332366	0.00001
NM_021954.4(GJA3):c.655A>G (p.Met219Val)	rs746511873	0.00001
NC_000013.10:g.(?_20716100)_(20717447_?)dup
NM_021954.4(GJA3):c.*1239C>G	rs575890873
NM_021954.4(GJA3):c.*1495G>C	rs1324857690
NM_021954.4(GJA3):c.*1760G>A	rs183550581
NM_021954.4(GJA3):c.*1941C>G	rs960605395
NM_021954.4(GJA3):c.*1965C>T	rs1958798103
NM_021954.4(GJA3):c.*198T>C	rs886050018
NM_021954.4(GJA3):c.*201G>C	rs1025195589
NM_021954.4(GJA3):c.*2086G>T	rs1958797398
NM_021954.4(GJA3):c.*2363A>G	rs1958795891
NM_021954.4(GJA3):c.*2829A>T	rs886050009
NM_021954.4(GJA3):c.*2923A>G	rs886050008
NM_021954.4(GJA3):c.*3099C>A	rs886050007
NM_021954.4(GJA3):c.*3182T>G	rs886050005
NM_021954.4(GJA3):c.*3389G>A	rs886050004
NM_021954.4(GJA3):c.*740G>C	rs141947045
NM_021954.4(GJA3):c.*744A>G	rs755473152
NM_021954.4(GJA3):c.*846G>A	rs886050015
NM_021954.4(GJA3):c.*846G>C	rs886050015
NM_021954.4(GJA3):c.1048G>A (p.Ala350Thr)
NM_021954.4(GJA3):c.1065C>G (p.Val355=)	rs989998887
NM_021954.4(GJA3):c.1089G>A (p.Ala363=)	rs1958811917
NM_021954.4(GJA3):c.1101_1108del (p.Glu367fs)
NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn)	rs1958811054
NM_021954.4(GJA3):c.1189dup (p.Ala397fs)
NM_021954.4(GJA3):c.1217A>G (p.Gln406Arg)	rs1593332899
NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala)	rs1047204525
NM_021954.4(GJA3):c.125A>C (p.Glu42Ala)
NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg)	rs1958809965
NM_021954.4(GJA3):c.136G>T (p.Gly46Cys)
NM_021954.4(GJA3):c.139G>T (p.Asp47Tyr)	rs1566515377
NM_021954.4(GJA3):c.142G>A (p.Glu48Lys)
NM_021954.4(GJA3):c.163A>G (p.Asn55Asp)
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys)	rs2141138365
NM_021954.4(GJA3):c.189C>A (p.Asn63Lys)
NM_021954.4(GJA3):c.199G>C (p.Asp67His)
NM_021954.4(GJA3):c.19C>G (p.Leu7Val)	rs1555339543
NM_021954.4(GJA3):c.200A>G (p.Asp67Gly)
NM_021954.4(GJA3):c.210C>A (p.Phe70Leu)	rs1958822283
NM_021954.4(GJA3):c.210C>G (p.Phe70Leu)
NM_021954.4(GJA3):c.226C>G (p.Arg76Gly)
NM_021954.4(GJA3):c.246C>G (p.Ile82Met)	rs781267768
NM_021954.4(GJA3):c.268C>T (p.Leu90Phe)
NM_021954.4(GJA3):c.290T>G (p.Leu97Arg)
NM_021954.4(GJA3):c.30_31del (p.Leu11fs)
NM_021954.4(GJA3):c.383A>T (p.Asp128Val)	rs1440873571
NM_021954.4(GJA3):c.428G>A (p.Gly143Glu)
NM_021954.4(GJA3):c.439C>T (p.Arg147Trp)	rs755792418
NM_021954.4(GJA3):c.43C>A (p.Gln15Lys)	rs1958823641
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile)	rs1555339477
NM_021954.4(GJA3):c.447C>A (p.Tyr149Ter)
NM_021954.4(GJA3):c.44A>G (p.Gln15Arg)	rs2141138491
NM_021954.4(GJA3):c.466A>C (p.Lys156Gln)	rs1114167308
NM_021954.4(GJA3):c.543C>A (p.Cys181Ter)
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser)	rs2141138001
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile)	rs140332366
NM_021954.4(GJA3):c.578T>C (p.Phe193Ser)
NM_021954.4(GJA3):c.589C>T (p.Pro197Ser)
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys)	rs2141137977
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile)	rs397514704
NM_021954.4(GJA3):c.618C>G (p.Phe206Leu)
NM_021954.4(GJA3):c.673C>G (p.Leu225Val)
NM_021954.4(GJA3):c.707G>A (p.Ser236Asn)
NM_021954.4(GJA3):c.720G>A (p.Pro240=)	rs746223535
NM_021954.4(GJA3):c.723C>A (p.Asp241Glu)	rs771424292
NM_021954.4(GJA3):c.766C>G (p.Pro256Ala)
NM_021954.4(GJA3):c.779G>A (p.Arg260Gln)	rs1958816239
NM_021954.4(GJA3):c.78G>A (p.Leu26=)	rs1172500719
NM_021954.4(GJA3):c.7G>C (p.Asp3His)	rs864309694
NM_021954.4(GJA3):c.815_817dup (p.Tyr272_Ala273insAsp)
NM_021954.4(GJA3):c.82G>A (p.Val28Met)	rs1555339539
NM_021954.4(GJA3):c.82G>T (p.Val28Leu)
NM_021954.4(GJA3):c.862C>T (p.Pro288Ser)	rs886050022
NM_021954.4(GJA3):c.868del (p.Ala290fs)
NM_021954.4(GJA3):c.885G>C (p.Ala295=)	rs886050021
NM_021954.4(GJA3):c.902C>T (p.Ala301Val)	rs1460869929
NM_021954.4(GJA3):c.905T>G (p.Leu302Arg)
NM_021954.4(GJA3):c.92T>A (p.Ile31Asn)
NM_021954.4(GJA3):c.949G>C (p.Gly317Arg)	rs377190812

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