ClinVar Miner

List of variants reported as uncertain significance for Cataract 33

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001195.5(BFSP1):c.374G>A (p.Ser125Asn) rs561395667 0.00056
NM_001195.5(BFSP1):c.202C>T (p.Leu68Phe) rs895975320 0.00044
NM_001195.5(BFSP1):c.1936G>A (p.Val646Met) rs145017887 0.00027
NM_001195.5(BFSP1):c.812T>C (p.Ile271Thr) rs147718368 0.00026
NM_001195.5(BFSP1):c.452C>G (p.Ala151Gly) rs201290418 0.00014
NM_001195.5(BFSP1):c.526C>T (p.His176Tyr) rs140135049 0.00013
NM_001195.5(BFSP1):c.685C>T (p.Arg229Trp) rs372210205 0.00009
NM_001195.5(BFSP1):c.878G>A (p.Arg293Gln) rs761925038 0.00009
NM_001195.5(BFSP1):c.1876G>A (p.Glu626Lys) rs374664442 0.00003
NM_001195.5(BFSP1):c.1927G>A (p.Ala643Thr) rs374265750 0.00003
NM_001195.5(BFSP1):c.280A>C (p.Ser94Arg) rs913200482 0.00003
NM_001195.5(BFSP1):c.1339A>C (p.Lys447Gln) rs765144287 0.00002
NM_001195.5(BFSP1):c.1468A>G (p.Thr490Ala) rs756439203 0.00002
NM_001195.5(BFSP1):c.1943C>T (p.Thr648Ile) rs752902567 0.00002
NM_001195.5(BFSP1):c.1162G>T (p.Asp388Tyr) rs755063095 0.00001
NM_001195.5(BFSP1):c.136G>T (p.Gly46Trp) rs964462179 0.00001
NM_001195.5(BFSP1):c.1402G>C (p.Glu468Gln) rs780229198 0.00001
NM_001195.5(BFSP1):c.1406G>A (p.Arg469Gln) rs781333440 0.00001
NM_001195.5(BFSP1):c.1678C>T (p.Arg560Cys) rs147422987 0.00001
NM_001195.5(BFSP1):c.205C>T (p.Arg69Trp) rs1243450543 0.00001
NM_001195.5(BFSP1):c.55G>A (p.Asp19Asn) rs1490233749 0.00001
NM_001195.5(BFSP1):c.658G>A (p.Ala220Thr) rs763291516 0.00001
NM_001195.5(BFSP1):c.847C>T (p.Arg283Trp) rs1214172583 0.00001
NM_001195.5(BFSP1):c.892G>A (p.Ala298Thr) rs746897399 0.00001
NC_000020.10:g.(?_17462209)_(17511974_?)dup
NM_001195.5(BFSP1):c.1029A>G (p.Gly343=) rs2515062275
NM_001195.5(BFSP1):c.125C>T (p.Ala42Val)
NM_001195.5(BFSP1):c.1286_1287insTGGACACAAGA (p.Glu429fs) rs775026510
NM_001195.5(BFSP1):c.1438G>T (p.Val480Leu) rs767136257
NM_001195.5(BFSP1):c.157G>A (p.Ala53Thr)
NM_001195.5(BFSP1):c.1679G>A (p.Arg560His) rs142869476
NM_001195.5(BFSP1):c.1937delinsAA (p.Val646fs) rs1555799947
NM_001195.5(BFSP1):c.227A>C (p.Gln76Pro)
NM_001195.5(BFSP1):c.28A>C (p.Thr10Pro)

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