ClinVar Miner

List of variants studied for Macrothrombocytopenia, isolated, 1, autosomal dominant by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp) rs121918555 0.00003
NM_030773.4(TUBB1):c.32A>C (p.Gln11Pro)
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_030773.4(TUBB1):c.997G>A (p.Val333Met)

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