ClinVar Miner

List of variants in gene CRYAA reported as likely benign for cataract 9 multiple types

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000394.4(CRYAA):c.*102T>C rs569866289 0.00411
NM_000394.4(CRYAA):c.*103C>T rs537385698 0.00410
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe) rs146914780 0.00234
NM_000394.4(CRYAA):c.198C>T (p.Ser66=) rs527765691 0.00024
NM_000394.4(CRYAA):c.189+14C>T rs191516889 0.00021
NM_000394.4(CRYAA):c.111G>A (p.Leu37=) rs151213687 0.00002
NM_000394.4(CRYAA):c.159C>T (p.Phe53=)
NM_000394.4(CRYAA):c.189+15G>A rs377222721
NM_000394.4(CRYAA):c.225C>T (p.Leu75=)
NM_000394.4(CRYAA):c.249G>A (p.Glu83=)
NM_000394.4(CRYAA):c.291C>T (p.His97=)
NM_000394.4(CRYAA):c.303C>T (p.Asn101=)
NM_000394.4(CRYAA):c.486G>A (p.Ser162=) rs376490511

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