ClinVar Miner

List of variants in gene CRYAB reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
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.115C>G (p.Pro39Ala) rs145768025 0.00003
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met) rs782122417 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.469C>T (p.Arg157Cys) rs374169381 0.00003
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His) rs782316391 0.00003
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.373C>T (p.Pro125Ser) rs374661019 0.00002
NM_001289808.2(CRYAB):c.487C>T (p.Arg163Cys) rs186242388 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.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.206G>A (p.Arg69His) rs987496548 0.00001
NM_001289808.2(CRYAB):c.20A>G (p.His7Arg) rs1467726434 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.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.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
NC_000011.10:g.(?_111908754)_(111908977_?)del
NC_000011.9:g.(?_111779478)_(111782458_?)dup
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.131T>C (p.Leu44Pro) rs1965457564
NM_001289808.2(CRYAB):c.149_163del (p.Arg50_Phe54del)
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr) rs794728982
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.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.202-9_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.21C>G (p.His7Gln) rs1555165608
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.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.287A>G (p.Asp96Gly) rs553865461
NM_001289808.2(CRYAB):c.290T>A (p.Val97Glu)
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+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.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.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.40T>G (p.Phe14Val) rs1555165595
NM_001289808.2(CRYAB):c.41T>C (p.Phe14Ser) rs1555165594
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.433G>A (p.Val145Met)
NM_001289808.2(CRYAB):c.433G>C (p.Val145Leu) rs781852612
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.476T>A (p.Ile159Asn) rs782115863
NM_001289808.2(CRYAB):c.47C>T (p.Pro16Leu) rs868946460
NM_001289808.2(CRYAB):c.482T>C (p.Ile161Thr) rs1592506005
NM_001289808.2(CRYAB):c.496A>T (p.Lys166Ter)
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.511G>T (p.Ala171Ser)
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.64C>T (p.Arg22Cys)
NM_001289808.2(CRYAB):c.76C>A (p.Gln26Lys) 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)

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