List of variants in gene ACTN2 reported as benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001103.4(ACTN2):c.877-8C>G	rs2288601	0.77958
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=)	rs34975493	0.03463
NM_001103.4(ACTN2):c.-22C>T	rs138279482	0.02321
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val)	rs35997569	0.01914
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.1932C>A (p.Ala644=)	rs144680712	0.00314
NM_001103.4(ACTN2):c.2368-17T>C	rs78961574	0.00255
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn)	rs80257412	0.00230
NM_001103.4(ACTN2):c.1515+15C>T	rs368107695	0.00147
NM_001103.4(ACTN2):c.441G>A (p.Ser147=)	rs150182164	0.00107
NM_001103.4(ACTN2):c.1657-16T>C	rs148194175	0.00095
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu)	rs143749154	0.00068
NM_001103.4(ACTN2):c.615+15C>T	rs369293885	0.00014

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