ClinVar Miner

List of variants in gene TUBA1A reported as uncertain significance by GeneDx

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006009.4(TUBA1A):c.1056G>C (p.Lys352Asn) rs1942166800
NM_006009.4(TUBA1A):c.1078C>T (p.Pro360Ser) rs2121242056
NM_006009.4(TUBA1A):c.1207_1214del (p.Ala403fs)
NM_006009.4(TUBA1A):c.1224C>A (p.Tyr408Ter) rs753719501
NM_006009.4(TUBA1A):c.128G>A (p.Gly43Glu)
NM_006009.4(TUBA1A):c.128G>T (p.Gly43Val) rs2498863473
NM_006009.4(TUBA1A):c.1337AAG[1] (p.Glu447del)
NM_006009.4(TUBA1A):c.326C>G (p.Thr109Ser) rs2121246504
NM_006009.4(TUBA1A):c.376-1G>C rs1942175909
NM_006009.4(TUBA1A):c.48del (p.Ile16fs) rs2498863633
NM_006009.4(TUBA1A):c.499C>A (p.Leu167Met)
NM_006009.4(TUBA1A):c.528G>T (p.Gln176His) rs2498860952
NM_006009.4(TUBA1A):c.581C>T (p.Thr194Ile) rs1397581823
NM_006009.4(TUBA1A):c.733G>A (p.Asp245Asn) rs1555162357
NM_006009.4(TUBA1A):c.870G>T (p.Glu290Asp) rs1555162335
NM_006009.4(TUBA1A):c.967G>A (p.Val323Met) rs2121242709

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