ClinVar Miner

List of variants reported as uncertain significance for cataract 12 multiple types

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_003571.4(BFSP2):c.*159T>G rs540920442 0.00034
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_003571.4(BFSP2):c.*132G>C rs578233592 0.00008
NM_003571.4(BFSP2):c.13C>T (p.Arg5Ter) rs1224719314 0.00004
NM_003571.4(BFSP2):c.5G>A (p.Ser2Asn) rs886058007 0.00004
NM_003571.4(BFSP2):c.867G>C (p.Glu289Asp) rs200862865 0.00004
NM_003571.4(BFSP2):c.370G>A (p.Ala124Thr) rs754811534 0.00002
NM_003571.4(BFSP2):c.396G>A (p.Leu132=) rs373365813 0.00002
NM_003571.4(BFSP2):c.1058A>G (p.Lys353Arg) rs746239628 0.00001
NM_003571.4(BFSP2):c.701T>C (p.Leu234Pro) rs886058011 0.00001
NM_003571.4(BFSP2):c.*225G>A rs2074202598
NM_003571.4(BFSP2):c.*226C>A rs574253958
NM_003571.4(BFSP2):c.1100T>G (p.Val367Gly) rs144693104
NM_003571.4(BFSP2):c.1138G>A (p.Glu380Lys)
NM_003571.4(BFSP2):c.1244+8T>C rs2074175378
NM_003571.4(BFSP2):c.185C>A (p.Pro62His)
NM_003571.4(BFSP2):c.190G>T (p.Gly64Trp)
NM_003571.4(BFSP2):c.215G>A (p.Arg72His)
NM_003571.4(BFSP2):c.251dup (p.Leu85fs) rs886058008
NM_003571.4(BFSP2):c.27C>G (p.Asp9Glu)
NM_003571.4(BFSP2):c.344TGG[1] (p.Val116del) rs2107871422
NM_003571.4(BFSP2):c.422A>C (p.Glu141Ala) rs886058009
NM_003571.4(BFSP2):c.458T>A (p.Leu153Gln)
NM_003571.4(BFSP2):c.461G>T (p.Arg154Leu)
NM_003571.4(BFSP2):c.517C>T (p.Arg173Trp) rs375380005
NM_003571.4(BFSP2):c.567A>G (p.Lys189=) rs886058010
NM_003571.4(BFSP2):c.578A>G (p.Glu193Gly) rs2073924367
NM_003571.4(BFSP2):c.630_631del (p.Tyr210_Lys211delinsTer) rs768745697
NM_003571.4(BFSP2):c.722A>G (p.Tyr241Cys) rs886058012
NM_003571.4(BFSP2):c.880C>T (p.Leu294Phe)
NM_003571.4(BFSP2):c.918C>G (p.Ser306=) rs1157387539

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