ClinVar Miner

List of variants in gene CRYAB studied for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_001289808.2(CRYAB):c.324+4T>G rs11603779 0.26871
NM_001885.3(CRYAB):c.-198-51C>G rs14133 0.26751
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_001289808.2(CRYAB):c.202-16A>G rs781953322 0.00012
NM_001289808.2(CRYAB):c.120G>A (p.Thr40=) rs374981255 0.00006
NM_001289808.2(CRYAB):c.216G>A (p.Lys72=) rs561116151 0.00006
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr) rs1349139935 0.00006
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp) rs534473091 0.00005
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421 0.00005
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg) rs1256600488 0.00004
NM_001289808.2(CRYAB):c.32G>A (p.Arg11His) rs782809283 0.00004
NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) rs4252582 0.00004
NM_001289808.2(CRYAB):c.9C>T (p.Ile3=) rs1555165618 0.00004
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) rs145768025 0.00003
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met) rs782122417 0.00003
NM_001289808.2(CRYAB):c.201+14C>G rs782207762 0.00003
NM_001289808.2(CRYAB):c.277G>T (p.Val93Leu) rs547282752 0.00003
NM_001289808.2(CRYAB):c.31C>T (p.Arg11Cys) rs781902168 0.00003
NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln) rs782206421 0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_001289808.2(CRYAB):c.469C>T (p.Arg157Cys) rs374169381 0.00003
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His) rs782316391 0.00003
NM_001289808.2(CRYAB):c.126T>G (p.Thr42=) rs781882384 0.00002
NM_001289808.2(CRYAB):c.174C>A (p.Pro58=) rs782151852 0.00002
NM_001289808.2(CRYAB):c.202A>T (p.Met68Leu) rs1291858452 0.00002
NM_001289808.2(CRYAB):c.301C>A (p.His101Asn) rs1029108489 0.00002
NM_001289808.2(CRYAB):c.325-2A>G rs202024436 0.00002
NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys) rs375933774 0.00002
NM_001289808.2(CRYAB):c.369G>T (p.Arg123=) rs1274021536 0.00002
NM_001289808.2(CRYAB):c.373C>T (p.Pro125Ser) rs374661019 0.00002
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys) rs186242388 0.00002
NM_001289808.2(CRYAB):c.504T>C (p.Ala168=) rs782361571 0.00002
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=) rs143500486 0.00002
NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg) rs148500053 0.00002
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp) rs886047688 0.00001
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr) rs1264081192 0.00001
NM_001289808.2(CRYAB):c.112T>C (p.Phe38Leu) rs1237590699 0.00001
NM_001289808.2(CRYAB):c.117G>A (p.Pro39=) rs782481381 0.00001
NM_001289808.2(CRYAB):c.127T>G (p.Ser43Ala) rs1359865460 0.00001
NM_001289808.2(CRYAB):c.133A>G (p.Ser45Gly) rs1450798906 0.00001
NM_001289808.2(CRYAB):c.134G>A (p.Ser45Asn) rs931730154 0.00001
NM_001289808.2(CRYAB):c.148C>T (p.Arg50Trp) rs1555165555 0.00001
NM_001289808.2(CRYAB):c.149G>A (p.Arg50Gln) rs781846534 0.00001
NM_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) rs387907338 0.00001
NM_001289808.2(CRYAB):c.206G>A (p.Arg69His) rs987496548 0.00001
NM_001289808.2(CRYAB):c.20A>G (p.His7Arg) rs1467726434 0.00001
NM_001289808.2(CRYAB):c.24C>T (p.Pro8=) rs1178917337 0.00001
NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr) rs577253222 0.00001
NM_001289808.2(CRYAB):c.324+3A>G rs1057520897 0.00001
NM_001289808.2(CRYAB):c.324G>C (p.Gln108His) rs886039099 0.00001
NM_001289808.2(CRYAB):c.325-6G>T rs376641676 0.00001
NM_001289808.2(CRYAB):c.325-9T>C rs1555165263 0.00001
NM_001289808.2(CRYAB):c.333T>C (p.His111=) rs982609751 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001289808.2(CRYAB):c.35G>A (p.Arg12His) rs930811941 0.00001
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg) rs781915800 0.00001
NM_001289808.2(CRYAB):c.38C>T (p.Pro13Leu) rs1461109639 0.00001
NM_001289808.2(CRYAB):c.406T>A (p.Ser136Thr) rs371079119 0.00001
NM_001289808.2(CRYAB):c.427C>T (p.Leu143Phe) rs782629197 0.00001
NM_001289808.2(CRYAB):c.461G>A (p.Gly154Asp) rs1555165228 0.00001
NM_001289808.2(CRYAB):c.471C>T (p.Arg157=) rs373551429 0.00001
NM_001289808.2(CRYAB):c.485C>T (p.Thr162Ile) rs199861008 0.00001
NM_001289808.2(CRYAB):c.488G>A (p.Arg163His) rs782207078 0.00001
NM_001289808.2(CRYAB):c.511G>A (p.Ala171Thr) rs370803064 0.00001
NM_001289808.2(CRYAB):c.52C>T (p.His18Tyr) rs373032047 0.00001
NM_001289808.2(CRYAB):c.84C>T (p.Phe28=) rs1555165581 0.00001
NC_000011.10:g.(?_111908754)_(111908977_?)del
NC_000011.9:g.(?_111779478)_(111782458_?)del
NC_000011.9:g.(?_111779478)_(111782458_?)dup
NC_000011.9:g.(?_111779488)_(111780026_?)del
NC_000011.9:g.(?_111779488)_(111782448_?)del
NM_001289808.2(CRYAB):c.104C>T (p.Ser35Phe) rs1555165569
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser) rs145768025
NM_001289808.2(CRYAB):c.116C>A (p.Pro39Gln) rs149787233
NM_001289808.2(CRYAB):c.117G>T (p.Pro39=)
NM_001289808.2(CRYAB):c.12C>T (p.Ala4=)
NM_001289808.2(CRYAB):c.130C>T (p.Leu44=) rs782720245
NM_001289808.2(CRYAB):c.131T>C (p.Leu44Pro) rs1965457564
NM_001289808.2(CRYAB):c.135T>C (p.Ser45=) rs1355387914
NM_001289808.2(CRYAB):c.145del (p.Leu49fs) rs1965456387
NM_001289808.2(CRYAB):c.149_163del (p.Arg50_Phe54del)
NM_001289808.2(CRYAB):c.153A>G (p.Pro51=)
NM_001289808.2(CRYAB):c.166C>A (p.Arg56=) rs387907338
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr) rs794728982
NM_001289808.2(CRYAB):c.171A>C (p.Ala57=)
NM_001289808.2(CRYAB):c.173C>A (p.Pro58His)
NM_001289808.2(CRYAB):c.173C>T (p.Pro58Leu)
NM_001289808.2(CRYAB):c.17A>T (p.His6Leu) rs1002278304
NM_001289808.2(CRYAB):c.187A>G (p.Thr63Ala) rs375886627
NM_001289808.2(CRYAB):c.191G>A (p.Gly64Glu)
NM_001289808.2(CRYAB):c.193C>A (p.Leu65Ile)
NM_001289808.2(CRYAB):c.195C>T (p.Leu65=)
NM_001289808.2(CRYAB):c.198A>G (p.Ser66=) rs143101974
NM_001289808.2(CRYAB):c.201+10C>G rs2137384200
NM_001289808.2(CRYAB):c.201+11C>A
NM_001289808.2(CRYAB):c.201+13A>C
NM_001289808.2(CRYAB):c.201+17C>G rs782366958
NM_001289808.2(CRYAB):c.201+17C>T rs782366958
NM_001289808.2(CRYAB):c.201+2_201+3dup
NM_001289808.2(CRYAB):c.201+5G>A
NM_001289808.2(CRYAB):c.201+5G>C rs1555165537
NM_001289808.2(CRYAB):c.201G>A (p.Glu67=) rs1965452797
NM_001289808.2(CRYAB):c.202-18T>C rs1057522206
NM_001289808.2(CRYAB):c.202-8A>G
NM_001289808.2(CRYAB):c.202-9_214dup rs2137382055
NM_001289808.2(CRYAB):c.205C>A (p.Arg69Ser) rs139750142
NM_001289808.2(CRYAB):c.205C>T (p.Arg69Cys) rs139750142
NM_001289808.2(CRYAB):c.206G>T (p.Arg69Leu) rs987496548
NM_001289808.2(CRYAB):c.215A>T (p.Lys72Met)
NM_001289808.2(CRYAB):c.219C>T (p.Asp73=) rs1555165414
NM_001289808.2(CRYAB):c.21C>G (p.His7Gln) rs1555165608
NM_001289808.2(CRYAB):c.220A>C (p.Arg74=) rs781913291
NM_001289808.2(CRYAB):c.220A>G (p.Arg74Gly) rs781913291
NM_001289808.2(CRYAB):c.222G>C (p.Arg74Ser)
NM_001289808.2(CRYAB):c.22C>T (p.Pro8Ser) rs782654756
NM_001289808.2(CRYAB):c.246_248del (p.Lys82_His83delinsAsn)
NM_001289808.2(CRYAB):c.247C>G (p.His83Asp) rs1965416729
NM_001289808.2(CRYAB):c.267C>T (p.Leu89=) rs2137381927
NM_001289808.2(CRYAB):c.268A>G (p.Lys90Glu)
NM_001289808.2(CRYAB):c.269A>G (p.Lys90Arg)
NM_001289808.2(CRYAB):c.277G>C (p.Val93Leu) rs547282752
NM_001289808.2(CRYAB):c.279G>A (p.Val93=)
NM_001289808.2(CRYAB):c.280T>C (p.Leu94=)
NM_001289808.2(CRYAB):c.282G>A (p.Leu94=)
NM_001289808.2(CRYAB):c.287A>G (p.Asp96Gly) rs553865461
NM_001289808.2(CRYAB):c.290T>A (p.Val97Glu)
NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter) rs1965414571
NM_001289808.2(CRYAB):c.300G>A (p.Val100=)
NM_001289808.2(CRYAB):c.302A>T (p.His101Leu) rs1965414373
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys) rs782520163
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly) rs781902168
NM_001289808.2(CRYAB):c.320G>A (p.Arg107His)
NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu) rs144451841
NM_001289808.2(CRYAB):c.324+10T>C
NM_001289808.2(CRYAB):c.324+11T>C rs2137381677
NM_001289808.2(CRYAB):c.324+13T>G rs370222107
NM_001289808.2(CRYAB):c.324+13dup rs782303631
NM_001289808.2(CRYAB):c.324+19T>G
NM_001289808.2(CRYAB):c.324+19del
NM_001289808.2(CRYAB):c.324+3_324+4delinsGG rs2137381725
NM_001289808.2(CRYAB):c.324+4T>A rs11603779
NM_001289808.2(CRYAB):c.324+4_324+5delinsGA rs1555165393
NM_001289808.2(CRYAB):c.324+4_324+5delinsGT rs1555165393
NM_001289808.2(CRYAB):c.324+5G>T
NM_001289808.2(CRYAB):c.325-5G>T
NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly) rs1114167341
NM_001289808.2(CRYAB):c.33C>T (p.Arg11=) rs782430984
NM_001289808.2(CRYAB):c.352T>G (p.Phe118Val)
NM_001289808.2(CRYAB):c.353T>C (p.Phe118Ser) rs876657766
NM_001289808.2(CRYAB):c.35G>T (p.Arg12Leu)
NM_001289808.2(CRYAB):c.362A>C (p.Lys121Thr) rs781915800
NM_001289808.2(CRYAB):c.373C>G (p.Pro125Ala) rs374661019
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) rs886047687
NM_001289808.2(CRYAB):c.376del (p.Ala126fs) rs2137378811
NM_001289808.2(CRYAB):c.381T>G (p.Asp127Glu) rs1286547434
NM_001289808.2(CRYAB):c.386A>G (p.Asp129Gly)
NM_001289808.2(CRYAB):c.395C>T (p.Thr132Ile)
NM_001289808.2(CRYAB):c.397A>G (p.Ile133Val) rs782672409
NM_001289808.2(CRYAB):c.401C>T (p.Thr134Ile) rs2137378724
NM_001289808.2(CRYAB):c.408C>T (p.Ser136=) rs1592506223
NM_001289808.2(CRYAB):c.40T>G (p.Phe14Val) rs1555165595
NM_001289808.2(CRYAB):c.414A>G (p.Ser138=)
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser) rs1555165594
NM_001289808.2(CRYAB):c.423G>C (p.Gly141=) rs781792556
NM_001289808.2(CRYAB):c.424G>T (p.Val142Phe) rs1965359147
NM_001289808.2(CRYAB):c.427C>G (p.Leu143Val) rs782629197
NM_001289808.2(CRYAB):c.429C>T (p.Leu143=)
NM_001289808.2(CRYAB):c.432T>G (p.Thr144=)
NM_001289808.2(CRYAB):c.433G>A (p.Val145Met)
NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu) rs781852612
NM_001289808.2(CRYAB):c.438T>C (p.Asn146=)
NM_001289808.2(CRYAB):c.440G>T (p.Gly147Val)
NM_001289808.2(CRYAB):c.451C>G (p.Gln151Glu)
NM_001289808.2(CRYAB):c.457T>G (p.Ser153Ala) rs1160682106
NM_001289808.2(CRYAB):c.458C>T (p.Ser153Phe) rs868980796
NM_001289808.2(CRYAB):c.464_465del (p.Pro155fs) rs1566402514
NM_001289808.2(CRYAB):c.465dup (p.Glu156Ter)
NM_001289808.2(CRYAB):c.471C>G (p.Arg157=) rs373551429
NM_001289808.2(CRYAB):c.474C>A (p.Thr158=)
NM_001289808.2(CRYAB):c.476T>A (p.Ile159Asn) rs782115863
NM_001289808.2(CRYAB):c.47C>T (p.Pro16Leu) rs868946460
NM_001289808.2(CRYAB):c.480C>T (p.Pro160=) rs782200096
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001289808.2(CRYAB):c.496A>T (p.Lys166Ter)
NM_001289808.2(CRYAB):c.498G>A (p.Lys166=)
NM_001289808.2(CRYAB):c.499C>G (p.Pro167Ala) rs1965354125
NM_001289808.2(CRYAB):c.499_505del (p.Pro167fs)
NM_001289808.2(CRYAB):c.503C>G (p.Ala168Gly) rs2137378339
NM_001289808.2(CRYAB):c.510C>A (p.Thr170=) rs147970333
NM_001289808.2(CRYAB):c.510C>T (p.Thr170=) rs147970333
NM_001289808.2(CRYAB):c.511G>T (p.Ala171Ser)
NM_001289808.2(CRYAB):c.519C>T (p.Pro173=)
NM_001289808.2(CRYAB):c.522G>T (p.Lys174Asn) rs1965352034
NM_001289808.2(CRYAB):c.524A>T (p.Lys175Ile) rs1965351856
NM_001289808.2(CRYAB):c.56C>A (p.Ser19Tyr)
NM_001289808.2(CRYAB):c.56C>T (p.Ser19Phe) rs537074990
NM_001289808.2(CRYAB):c.57C>G (p.Ser19=)
NM_001289808.2(CRYAB):c.60C>G (p.Pro20=)
NM_001289808.2(CRYAB):c.64C>T (p.Arg22Cys)
NM_001289808.2(CRYAB):c.66C>T (p.Arg22=) rs1310997127
NM_001289808.2(CRYAB):c.76C>A (p.Gln26Lys) rs1965461881
NM_001289808.2(CRYAB):c.76C>T (p.Gln26Ter) rs1965461881
NM_001289808.2(CRYAB):c.78G>C (p.Gln26His)
NM_001289808.2(CRYAB):c.79TTC[1] (p.Phe28del)
NM_001289808.2(CRYAB):c.7A>G (p.Ile3Val)
NM_001289808.2(CRYAB):c.85G>A (p.Gly29Arg) rs148500053
NM_001289808.2(CRYAB):c.86G>C (p.Gly29Ala) rs1965460969
NM_001289808.2(CRYAB):c.88G>A (p.Glu30Lys)
NM_001289808.2(CRYAB):c.93C>T (p.His31=) rs1592509748
NM_001289808.2(CRYAB):c.96G>A (p.Leu32=) rs782402748
NM_001289808.2(CRYAB):c.96G>T (p.Leu32=) rs782402748

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