ClinVar Miner

List of variants studied for Cutis laxa with osteodystrophy by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00021
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402 0.00002
NM_012463.4(ATP6V0A2):c.1100C>G (p.Pro367Arg)
NM_012463.4(ATP6V0A2):c.1831G>T (p.Val611Phe)
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747

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