ClinVar Miner

List of variants in gene TUBB1 studied for Macrothrombocytopenia, isolated, 1, autosomal dominant

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_030773.4(TUBB1):c.920G>A (p.Arg307His) rs6070697 0.16486
NM_030773.4(TUBB1):c.-88G>C rs150072434 0.00807
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp) rs140943896 0.00583
NM_030773.4(TUBB1):c.827A>G (p.Gln276Arg) rs144046758 0.00402
NM_030773.4(TUBB1):c.13G>A (p.Val5Ile) rs145280665 0.00137
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu) rs41303899 0.00092
NM_030773.4(TUBB1):c.388C>G (p.Leu130Val) rs202177647 0.00028
NM_030773.4(TUBB1):c.578T>C (p.Ile193Thr) rs141698221 0.00022
NM_030773.4(TUBB1):c.965C>T (p.Ser322Phe) rs147941536 0.00012
NM_030773.4(TUBB1):c.721C>T (p.Arg241Trp) rs368923302 0.00011
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_030773.4(TUBB1):c.1199G>A (p.Ser400Asn) rs781589173 0.00003
NM_030773.4(TUBB1):c.554C>T (p.Ala185Val) rs146846923 0.00003
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.637C>T (p.Arg213Cys) rs777100651 0.00002
NM_030773.4(TUBB1):c.1219G>A (p.Glu407Lys) rs779957131 0.00001
NM_030773.4(TUBB1):c.1267C>T (p.Gln423Ter) rs767041023 0.00001
NM_030773.4(TUBB1):c.167-7T>C rs968442498 0.00001
NM_030773.4(TUBB1):c.319A>C (p.Thr107Pro) rs752079894 0.00001
NM_030773.4(TUBB1):c.423G>A (p.Gly141=) rs768646480 0.00001
NM_030773.4(TUBB1):c.726C>G (p.Phe242Leu) rs890185415 0.00001
NM_030773.4(TUBB1):c.1036C>T (p.Pro346Ser) rs774134509
NM_030773.4(TUBB1):c.1041C>A (p.Asn347Lys) rs1421750582
NM_030773.4(TUBB1):c.1060T>C (p.Cys354Arg) rs2146377718
NM_030773.4(TUBB1):c.1241_1243del (p.Asn414del)
NM_030773.4(TUBB1):c.128_129delinsCC (p.Gln43Pro)
NM_030773.4(TUBB1):c.166+1G>C
NM_030773.4(TUBB1):c.170G>A (p.Arg57Lys)
NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter) rs767380935
NM_030773.4(TUBB1):c.32A>C (p.Gln11Pro)
NM_030773.4(TUBB1):c.37G>A (p.Gly13Ser) rs2146372976
NM_030773.4(TUBB1):c.421G>A (p.Gly141Arg) rs778975827
NM_030773.4(TUBB1):c.57+1G>A rs376073390
NM_030773.4(TUBB1):c.5G>C (p.Arg2Pro)
NM_030773.4(TUBB1):c.671A>T (p.Asp224Val)
NM_030773.4(TUBB1):c.745G>C (p.Asp249His) rs2091981798
NM_030773.4(TUBB1):c.769A>G (p.Met257Val)
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser) rs1057517996
NM_030773.4(TUBB1):c.806G>A (p.Gly269Asp)
NM_030773.4(TUBB1):c.850C>T (p.Leu284Phe) rs2146377410
NM_030773.4(TUBB1):c.890G>A (p.Arg297His) rs755599464
NM_030773.4(TUBB1):c.935C>G (p.Thr312Arg)
NM_030773.4(TUBB1):c.997G>A (p.Val333Met)

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