List of variants in gene ACTB studied for ACTB-associated syndromic thrombocytopenia

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.1012_1023del (p.Ser338_Ile341del)	rs2533845983
NM_001101.5(ACTB):c.1067G>A (p.Trp356Ter)
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.583G>C (p.Glu195Gln)	rs1784813193
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr)	rs587780273
NM_001101.5(ACTB):c.848T>C (p.Met283Thr)
NM_001101.5(ACTB):c.992_1008del (p.Ala331fs)	rs2533846013

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