ClinVar Miner

List of variants in gene CRYAB studied for Cardiovascular phenotype

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001289808.2(CRYAB):c.324+4T>G rs11603779 0.26871
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.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.470G>A (p.Arg157His) rs141638421 0.00005
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.277G>T (p.Val93Leu) rs547282752 0.00003
NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln) rs782206421 0.00003
NM_001289808.2(CRYAB):c.126T>G (p.Thr42=) rs781882384 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.369G>T (p.Arg123=) rs1274021536 0.00002
NM_001289808.2(CRYAB):c.373C>T (p.Pro125Ser) rs374661019 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.10G>A (p.Ala4Thr) rs1264081192 0.00001
NM_001289808.2(CRYAB):c.112T>C (p.Phe38Leu) rs1237590699 0.00001
NM_001289808.2(CRYAB):c.149G>A (p.Arg50Gln) rs781846534 0.00001
NM_001289808.2(CRYAB):c.19C>T (p.His7Tyr) rs1555165611 0.00001
NM_001289808.2(CRYAB):c.206G>A (p.Arg69His) rs987496548 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.333T>C (p.His111=) rs982609751 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.6C>T (p.Asp2=) rs782577028 0.00001
NM_001289808.2(CRYAB):c.84C>T (p.Phe28=) rs1555165581 0.00001
NM_001289808.2(CRYAB):c.-2C>T rs782389011
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser) rs145768025
NM_001289808.2(CRYAB):c.125C>G (p.Thr42Ser)
NM_001289808.2(CRYAB):c.130C>A (p.Leu44Met)
NM_001289808.2(CRYAB):c.135T>C (p.Ser45=) rs1355387914
NM_001289808.2(CRYAB):c.177C>T (p.Ser59=)
NM_001289808.2(CRYAB):c.187A>G (p.Thr63Ala) rs375886627
NM_001289808.2(CRYAB):c.195C>T (p.Leu65=)
NM_001289808.2(CRYAB):c.21C>T (p.His7=)
NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter) rs1965414571
NM_001289808.2(CRYAB):c.324+5G>A
NM_001289808.2(CRYAB):c.345C>T (p.Ser115=)
NM_001289808.2(CRYAB):c.4G>A (p.Asp2Asn)
NM_001289808.2(CRYAB):c.509C>T (p.Thr170Ile)
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.57C>G (p.Ser19=)
NM_001289808.2(CRYAB):c.57C>T (p.Ser19=)
NM_001289808.2(CRYAB):c.68T>C (p.Leu23Pro) rs1555165587
NM_001289808.2(CRYAB):c.85G>A (p.Gly29Arg) rs148500053

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