List of variants reported as pathogenic for TUBB3-related tubulinopathy by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)	rs267607165
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)	rs267607164
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His)	rs267607164
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)	rs267607162
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr)	rs267607163

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