List of variants in gene ACTN2 reported by Stanford Center for Inherited Cardiovascular Disease, Stanford University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001103.4(ACTN2):c.893G>A (p.Arg298His)	rs142482143	0.00042
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)	rs193922635	0.00024
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly)	rs200631005	0.00012
NM_001103.4(ACTN2):c.1714C>T (p.Arg572Trp)	rs142142718	0.00011
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)	rs139489232	0.00010
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr)	rs148972050	0.00009
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly)	rs199920384	0.00006
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr)	rs370757762	0.00006
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe)	rs371930065	0.00003
NM_001103.4(ACTN2):c.1031A>G (p.Asn344Ser)	rs886046206	0.00001
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn)	rs749178520	0.00001
NM_001103.4(ACTN2):c.1552C>T (p.His518Tyr)	rs573836993	0.00001
NM_001103.4(ACTN2):c.1691C>T (p.Thr564Met)	rs876661341	0.00001
NM_001103.4(ACTN2):c.775G>A (p.Ala259Thr)	rs574401232	0.00001
NM_001103.4(ACTN2):c.1948G>A (p.Gly650Arg)	rs1173244523
NM_001103.4(ACTN2):c.250C>T (p.Leu84=)	rs1558232391
NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter)	rs763078071

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