List of variants reported as likely pathogenic for Macrothrombocytopenia, isolated, 1, autosomal dominant

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	rs41303899	0.00092
NM_030773.4(TUBB1):c.952C>T (p.Arg318Trp)	rs121918555	0.00003
NM_030773.4(TUBB1):c.436G>A (p.Gly146Arg)	rs371852125	0.00002
NM_030773.4(TUBB1):c.726C>G (p.Phe242Leu)	rs890185415	0.00001
NM_030773.4(TUBB1):c.166+1G>C
NM_030773.4(TUBB1):c.57+1G>A	rs376073390
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)	rs1057517996

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