ClinVar Miner

List of variants in gene ADAMTSL4 studied for Ectopia lentis

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_019032.6(ADAMTSL4):c.1893G>A (p.Pro631=) rs112045022 0.00112
NM_019032.6(ADAMTSL4):c.*457GT[1] rs886045271
NM_019032.6(ADAMTSL4):c.1750-10_1750-6del rs886045267
NM_019032.6(ADAMTSL4):c.2178-7C>A rs587746986
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs) rs199473693

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