ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_019032.6(ADAMTSL4):c.2442T>C (p.Asn814=) rs10888382 0.87842
NM_019032.6(ADAMTSL4):c.2484G>A (p.Pro828=) rs10749657 0.85136
NM_019032.6(ADAMTSL4):c.577G>C (p.Ala193Pro) rs41317515 0.54827
NM_019032.6(ADAMTSL4):c.2512A>G (p.Met838Val) rs74124919 0.06305
NM_019032.6(ADAMTSL4):c.*120G>A rs1553959 0.03195
NM_019032.6(ADAMTSL4):c.130G>A (p.Glu44Lys) rs41317513 0.02885
NM_019032.6(ADAMTSL4):c.2943+17G>A rs116614291 0.02405
NM_019032.6(ADAMTSL4):c.*636C>A rs35531650 0.02193
NM_019032.6(ADAMTSL4):c.2305C>G (p.Leu769Val) rs56228576 0.01874
NM_019032.6(ADAMTSL4):c.3083G>A (p.Arg1028His) rs56411234 0.01782
NM_019032.6(ADAMTSL4):c.-143C>T rs12061739 0.01320
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.2121G>A (p.Ala707=) rs41317525 0.00968
NM_019032.6(ADAMTSL4):c.926G>A (p.Arg309Gln) rs76075180 0.00923
NM_019032.6(ADAMTSL4):c.803C>T (p.Ser268Phe) rs41317517 0.00813
NM_019032.6(ADAMTSL4):c.1861+13C>T rs113919442 0.00454
NM_019032.6(ADAMTSL4):c.1098G>A (p.Gly366=) rs75477151 0.00424
NM_019032.6(ADAMTSL4):c.2427C>T (p.Arg809=) rs117343055 0.00235
NM_019032.6(ADAMTSL4):c.2763+12G>A rs200136870 0.00185
NM_019032.6(ADAMTSL4):c.2087C>T (p.Ser696Leu) rs115937511 0.00142
NM_019032.6(ADAMTSL4):c.920G>A (p.Arg307Gln) rs142705142 0.00070
NM_019032.6(ADAMTSL4):c.2288C>T (p.Pro763Leu) rs56055939
NM_019032.6(ADAMTSL4):c.939C>T (p.Gly313=) rs6681639

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