ClinVar Miner

List of variants studied for Cataract 45

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015073.3(SIPA1L3):c.5203-23T>C rs10419131 0.46560
NM_015073.3(SIPA1L3):c.4808C>G (p.Pro1603Arg) rs769799297 0.00023
NM_015073.3(SIPA1L3):c.4489C>T (p.Arg1497Ter) rs756898971 0.00001
NM_015073.3(SIPA1L3):c.3492dup (p.Gly1165fs) rs1568573490
NM_015073.3(SIPA1L3):c.3535T>G (p.Tyr1179Asp) rs1971857507
NM_015073.3(SIPA1L3):c.5203-29G>A rs74573108
NM_015073.3(SIPA1L3):c.5248C>T (p.Arg1750Trp) rs1261792226
NM_015073.3(SIPA1L3):c.947G>A (p.Arg316His) rs767672961

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