ClinVar Miner

List of variants reported as likely benign for Ectopia lentis 2, isolated, autosomal recessive

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_019032.6(ADAMTSL4):c.3083G>A (p.Arg1028His) rs56411234 0.01782
NM_019032.6(ADAMTSL4):c.3139C>A (p.Arg1047=) rs113799188 0.01266
NM_019032.6(ADAMTSL4):c.2906C>A (p.Ala969Asp) rs150225445 0.00984
NM_019032.6(ADAMTSL4):c.803C>T (p.Ser268Phe) rs41317517 0.00813
NM_019032.6(ADAMTSL4):c.*295G>C rs114181942 0.00319
NM_019032.6(ADAMTSL4):c.2969C>T (p.Thr990Met) rs139784416 0.00307
NM_019032.6(ADAMTSL4):c.2829G>A (p.Thr943=) rs76546607 0.00218
NM_019032.6(ADAMTSL4):c.2580G>A (p.Thr860=) rs150680122 0.00187
NM_019032.6(ADAMTSL4):c.2763+12G>A rs200136870 0.00185
NM_019032.6(ADAMTSL4):c.584C>T (p.Pro195Leu) rs139990606 0.00185
NM_019032.6(ADAMTSL4):c.1007G>A (p.Gly336Asp) rs142354320 0.00133
NM_019032.6(ADAMTSL4):c.3179G>A (p.Arg1060His) rs147697821 0.00041
NM_019032.6(ADAMTSL4):c.3178C>G (p.Arg1060Gly) rs145169593 0.00011
NM_019032.6(ADAMTSL4):c.1179C>T (p.Ala393=) rs182053027 0.00009
NM_019032.6(ADAMTSL4):c.1492C>T (p.Leu498=) rs149722020 0.00008
NM_019032.6(ADAMTSL4):c.*126G>A rs117403663 0.00007
NM_019032.6(ADAMTSL4):c.1268G>A (p.Arg423Gln) rs370381933 0.00003
NM_019032.6(ADAMTSL4):c.2288C>G (p.Pro763Arg) rs56055939
NM_019032.6(ADAMTSL4):c.2704G>A (p.Ala902Thr) rs376803411

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