ClinVar Miner

List of variants in gene combination ATP6V0A2, LOC126861666 reported as likely benign for ALG9 congenital disorder of glycosylation

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.1935+8A>G rs377650732 0.00010
NM_012463.4(ATP6V0A2):c.1725-19G>T
NM_012463.4(ATP6V0A2):c.1725-6T>G
NM_012463.4(ATP6V0A2):c.1725-9C>T
NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=)
NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=)
NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=)
NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=)
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=) rs776365183
NM_012463.4(ATP6V0A2):c.1863C>T (p.Pro621=) rs2135914630
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=) rs1593915216
NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=)

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