ClinVar Miner

List of variants reported for Ectopia lentis et pupillae; Ectopia lentis 2, isolated, autosomal recessive by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_019032.6(ADAMTSL4):c.2087C>T (p.Ser696Leu) rs115937511 0.00142
NM_019032.6(ADAMTSL4):c.2944-7G>A rs193025475 0.00105
NM_019032.6(ADAMTSL4):c.2559+9G>A rs12049100 0.00033
NM_019032.6(ADAMTSL4):c.2560-4G>A rs374389962 0.00030
NM_019032.6(ADAMTSL4):c.1483G>A (p.Gly495Arg) rs139551885 0.00024
NM_019032.6(ADAMTSL4):c.2341C>T (p.Arg781Cys) rs149442347 0.00013
NM_019032.6(ADAMTSL4):c.1234+90G>A rs762772611 0.00008
NM_019032.6(ADAMTSL4):c.2839G>A (p.Val947Met) rs145015450 0.00007
NM_019032.6(ADAMTSL4):c.1378G>A (p.Gly460Ser) rs587749107 0.00002
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter) rs368482584 0.00002
NM_019032.6(ADAMTSL4):c.1234+3G>A rs1318676781 0.00001
NM_019032.6(ADAMTSL4):c.2178-10G>T rs766540875
NM_019032.6(ADAMTSL4):c.2442T>G (p.Asn814Lys) rs10888382
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693
NM_019032.6(ADAMTSL4):c.963_964insT (p.Thr322fs) rs2101584597

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