ClinVar Miner

List of variants reported as likely benign for cataract 10 multiple types by Invitae

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005208.5(CRYBA1):c.475G>A (p.Gly159Ser) rs117757092 0.00232
NM_005208.5(CRYBA1):c.464A>G (p.Asn155Ser) rs140057151 0.00024
NM_005208.5(CRYBA1):c.471A>G (p.Glu157=) rs755489260 0.00002
NM_005208.5(CRYBA1):c.357+7C>T rs1473744071 0.00001
NM_005208.5(CRYBA1):c.500+17G>A rs761853246 0.00001
NM_005208.5(CRYBA1):c.173G>A (p.Arg58His) rs147994059
NM_005208.5(CRYBA1):c.309T>C (p.Asn103=) rs759439567
NM_005208.5(CRYBA1):c.31+7A>G rs757547144
NM_005208.5(CRYBA1):c.358-11C>G

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