ClinVar Miner

List of variants studied for cataract 12 multiple types

Included ClinVar conditions (1):
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_003571.4(BFSP2):c.572+160A>G rs7644197 0.93297
NM_003571.4(BFSP2):c.1244+44A>G rs7628499 0.61687
NM_003571.4(BFSP2):c.603= (p.Ala201=) rs2276737 0.54090
NM_003571.4(BFSP2):c.603G>A (p.Ala201=) rs2276737 0.45910
NM_003571.4(BFSP2):c.1023+31T>C rs2737717 0.43165
NM_003571.4(BFSP2):c.1220C>A (p.Ala407Asp) rs79087781 0.04138
NM_003571.4(BFSP2):c.369C>T (p.His123=) rs34163197 0.01054
NM_003571.4(BFSP2):c.162C>T (p.Pro54=) rs112142146 0.01053
NM_003571.4(BFSP2):c.892-17G>C rs17366213 0.00831
NM_003571.4(BFSP2):c.954G>T (p.Arg318Ser) rs146972354 0.00186
NM_003571.4(BFSP2):c.75G>A (p.Ala25=) rs146992682 0.00111
NM_003571.4(BFSP2):c.366G>A (p.Val122=) rs139476224 0.00079
NM_003571.4(BFSP2):c.246T>C (p.Ser82=) rs145934653 0.00067
NM_003571.4(BFSP2):c.865G>A (p.Glu289Lys) rs145444931 0.00041
NM_003571.4(BFSP2):c.*159T>G rs540920442 0.00034
NM_003571.4(BFSP2):c.379C>G (p.Gln127Glu) rs185816798 0.00031
NM_003571.4(BFSP2):c.1115C>T (p.Ala372Val) rs139944598 0.00025
NM_003571.4(BFSP2):c.720C>T (p.Asn240=) rs376911067 0.00019
NM_003571.4(BFSP2):c.51C>T (p.Ser17=) rs141310092 0.00017
NM_003571.4(BFSP2):c.*73C>T rs537979573 0.00014
NM_003571.4(BFSP2):c.667C>G (p.Leu223Val) rs199755934 0.00011
NM_003571.4(BFSP2):c.*132G>C rs578233592 0.00008
NM_003571.4(BFSP2):c.436C>T (p.Arg146Cys) rs144399466 0.00005
NM_003571.4(BFSP2):c.13C>T (p.Arg5Ter) rs1224719314 0.00004
NM_003571.4(BFSP2):c.410G>A (p.Arg137Gln) rs80176276 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.-4G>A rs534216602 0.00002
NM_003571.4(BFSP2):c.24G>A (p.Val8=) rs777311531 0.00002
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.522C>T (p.Leu174=) rs375822049 0.00002
NM_003571.4(BFSP2):c.*209C>T rs150374124 0.00001
NM_003571.4(BFSP2):c.100T>C (p.Ser34Pro) rs200208769 0.00001
NM_003571.4(BFSP2):c.1058A>G (p.Lys353Arg) rs746239628 0.00001
NM_003571.4(BFSP2):c.285C>T (p.Thr95=) rs748115575 0.00001
NM_003571.4(BFSP2):c.701T>C (p.Leu234Pro) rs886058011 0.00001
NM_003571.4(BFSP2):c.730-7T>C rs75746794 0.00001
NM_003571.4(BFSP2):c.859C>T (p.Arg287Trp) rs104893685 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.166del (p.Val56fs) rs1576552712
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.437G>T (p.Arg146Leu) rs148759360
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.694GAA[1] (p.Glu233del) rs121908938
NM_003571.4(BFSP2):c.722A>G (p.Tyr241Cys) rs886058012
NM_003571.4(BFSP2):c.859C>A (p.Arg287=) rs104893685
NM_003571.4(BFSP2):c.880C>T (p.Leu294Phe)
NM_003571.4(BFSP2):c.888T>G (p.Ala296=) rs199694156
NM_003571.4(BFSP2):c.918C>G (p.Ser306=) rs1157387539

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