ClinVar Miner

List of variants in gene CRYAB reported as likely benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
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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.152C>T (p.Pro51Leu) rs2234704 0.00068
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.9C>T (p.Ile3=) rs1555165618 0.00004
NM_001289808.2(CRYAB):c.201+14C>G rs782207762 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.369G>T (p.Arg123=) rs1274021536 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.117G>A (p.Pro39=) rs782481381 0.00001
NM_001289808.2(CRYAB):c.24C>T (p.Pro8=) rs1178917337 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.471C>T (p.Arg157=) rs373551429 0.00001
NM_001289808.2(CRYAB):c.84C>T (p.Phe28=) rs1555165581 0.00001
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.135T>C (p.Ser45=) rs1355387914
NM_001289808.2(CRYAB):c.153A>G (p.Pro51=)
NM_001289808.2(CRYAB):c.166C>A (p.Arg56=) rs387907338
NM_001289808.2(CRYAB):c.171A>C (p.Ala57=)
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.202-18T>C rs1057522206
NM_001289808.2(CRYAB):c.202-8A>G
NM_001289808.2(CRYAB):c.219C>T (p.Asp73=) rs1555165414
NM_001289808.2(CRYAB):c.220A>C (p.Arg74=) rs781913291
NM_001289808.2(CRYAB):c.267C>T (p.Leu89=) rs2137381927
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.300G>A (p.Val100=)
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.33C>T (p.Arg11=) rs782430984
NM_001289808.2(CRYAB):c.375A>C (p.Pro125=) rs886047687
NM_001289808.2(CRYAB):c.408C>T (p.Ser136=) rs1592506223
NM_001289808.2(CRYAB):c.414A>G (p.Ser138=)
NM_001289808.2(CRYAB):c.423G>C (p.Gly141=) rs781792556
NM_001289808.2(CRYAB):c.429C>T (p.Leu143=)
NM_001289808.2(CRYAB):c.432T>G (p.Thr144=)
NM_001289808.2(CRYAB):c.438T>C (p.Asn146=)
NM_001289808.2(CRYAB):c.471C>G (p.Arg157=) rs373551429
NM_001289808.2(CRYAB):c.474C>A (p.Thr158=)
NM_001289808.2(CRYAB):c.480C>T (p.Pro160=) rs782200096
NM_001289808.2(CRYAB):c.498G>A (p.Lys166=)
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.519C>T (p.Pro173=)
NM_001289808.2(CRYAB):c.60C>G (p.Pro20=)
NM_001289808.2(CRYAB):c.66C>T (p.Arg22=) rs1310997127
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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