List of variants reported as pathogenic for ACTB-associated syndromic thrombocytopenia

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.1012_1023del (p.Ser338_Ile341del)	rs2533845983
NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys)	rs368352689
NM_001101.5(ACTB):c.1101dup (p.Ser368fs)	rs2533845770
NM_001101.5(ACTB):c.511C>T (p.Leu171Phe)	rs2533847765
NM_001101.5(ACTB):c.992_1008del (p.Ala331fs)	rs2533846013

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