ClinVar Miner

List of variants in gene TUBA1A studied for Inborn genetic diseases

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Total variants: 21
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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.1264C>T (p.Arg422Cys) rs137853049
NM_006009.4(TUBA1A):c.128G>T (p.Gly43Val)
NM_006009.4(TUBA1A):c.1298AGG[1] (p.Glu434del) rs1555162244
NM_006009.4(TUBA1A):c.191G>A (p.Arg64Gln) rs1942184922
NM_006009.4(TUBA1A):c.251G>A (p.Arg84His) rs1400284461
NM_006009.4(TUBA1A):c.283G>T (p.Gly95Cys) rs1555162486
NM_006009.4(TUBA1A):c.3+765A>G
NM_006009.4(TUBA1A):c.344T>C (p.Ile115Thr) rs1085307716
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys) rs886039513
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.781C>G (p.Pro261Ala)
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys) rs137853043
NM_006009.4(TUBA1A):c.902A>G (p.Gln301Arg) rs1942169309
NM_006009.4(TUBA1A):c.959G>A (p.Arg320His) rs1555162323

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