ClinVar Miner

List of variants in gene BFSP2 reported as likely benign for cataract

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003571.4(BFSP2):c.51C>T (p.Ser17=) rs141310092 0.00017
NM_003571.4(BFSP2):c.667C>G (p.Leu223Val) rs199755934 0.00011
NM_003571.4(BFSP2):c.-4G>A rs534216602 0.00002
NM_003571.4(BFSP2):c.24G>A (p.Val8=) rs777311531 0.00002
NM_003571.4(BFSP2):c.522C>T (p.Leu174=) rs375822049 0.00002
NM_003571.4(BFSP2):c.*209C>T rs150374124 0.00001
NM_003571.4(BFSP2):c.730-7T>C rs75746794 0.00001
NM_003571.4(BFSP2):c.*140del rs139190094
NM_003571.4(BFSP2):c.437G>T (p.Arg146Leu) rs148759360
NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp) rs375380005
NM_003571.4(BFSP2):c.859C>A (p.Arg287=) rs104893685
NM_003571.4(BFSP2):c.888T>G (p.Ala296=) rs199694156

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