ClinVar Miner

List of variants in gene TUBA1A studied for hereditary skeletal muscle disorder

Included ClinVar conditions (571):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) rs1942164218
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp) rs1942163977
NM_006009.4(TUBA1A):c.467G>A (p.Arg156His) rs1942174390

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