ClinVar Miner

List of variants reported as pathogenic for cataract 9 multiple types

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000394.4(CRYAA):c.160C>T (p.Arg54Cys) rs397515623 0.00003
NM_000394.4(CRYAA):c.145C>T (p.Arg49Cys) rs74315441 0.00001
NM_000394.4(CRYAA):c.62G>A (p.Arg21Gln) rs397515626 0.00001
NM_000394.4(CRYAA):c.161G>C (p.Arg54Pro)
NM_000394.4(CRYAA):c.292G>A (p.Gly98Arg) rs398122947
NM_000394.4(CRYAA):c.346C>T (p.Arg116Cys) rs74315439
NM_000394.4(CRYAA):c.347G>A (p.Arg116His) rs121912973
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys) rs397515624
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp) rs397515625

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