List of variants in gene ACTN2 reported as benign for Cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=)	rs34975493	0.03463
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val)	rs35997569	0.01914
NM_001103.4(ACTN2):c.705G>C (p.Val235=)	rs2288599	0.00749
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)	rs114008185	0.00577
NM_001103.4(ACTN2):c.870G>A (p.Ala290=)	rs116464082	0.00506
NM_001103.4(ACTN2):c.536+10C>T	rs141219516	0.00429
NM_001103.4(ACTN2):c.1932C>A (p.Ala644=)	rs144680712	0.00314
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn)	rs80257412	0.00230
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=)	rs34785693	0.00215
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=)	rs34827377	0.00106
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=)	rs144122893	0.00097
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn)	rs138452803	0.00094
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu)	rs143749154	0.00068
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=)	rs146426213	0.00066
NM_001103.4(ACTN2):c.546T>C (p.Asp182=)	rs34263845	0.00066
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)	rs200529923	0.00054
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser)	rs149433837	0.00026
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.1794G>A (p.Pro598=)	rs137890030	0.00006
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=)	rs141884271	0.00004
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr)	rs142943120
NM_001103.4(ACTN2):c.1452G>C (p.Gln484His)	rs200529923
NM_001103.4(ACTN2):c.1975-6C>G	rs201255023
NM_001103.4(ACTN2):c.918C>T (p.Asn306=)	rs148646265

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