ClinVar Miner

List of variants in gene TUBB4A studied for Inborn genetic diseases

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006087.4(TUBB4A):c.1030T>C (p.Trp344Arg) rs1555753916
NM_006087.4(TUBB4A):c.115G>T (p.Asp39Tyr)
NM_006087.4(TUBB4A):c.1240A>T (p.Asn414Tyr) rs1914081211
NM_006087.4(TUBB4A):c.278-15_278-6del rs768924966
NM_006087.4(TUBB4A):c.293G>A (p.Gly98Asp) rs1555754185
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu) rs587777429
NM_006087.4(TUBB4A):c.736C>G (p.Leu246Val) rs2145244734
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His) rs886039470
NM_006087.4(TUBB4A):c.845G>A (p.Arg282Gln)

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