ClinVar Miner

List of variants in gene TUBA1A reported as likely pathogenic by Ambry Genetics

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met) rs1555162303
NM_006009.4(TUBA1A):c.1082C>T (p.Thr361Ile) rs1555162301
NM_006009.4(TUBA1A):c.128G>T (p.Gly43Val)
NM_006009.4(TUBA1A):c.191G>A (p.Arg64Gln) rs1942184922
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) rs1085307716
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.781C>G (p.Pro261Ala)
NM_006009.4(TUBA1A):c.902A>G (p.Gln301Arg) rs1942169309
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323

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