List of variants in gene ACTN2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 18

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HGVS	dbSNP	gnomAD frequency
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.2649G>A (p.Ala883=)	rs146426213	0.00066
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=)	rs200529923	0.00054
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=)	rs147245615	0.00032
NM_001103.4(ACTN2):c.1406+8C>T	rs397516567	0.00026
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)	rs193922635	0.00024
NM_001103.4(ACTN2):c.1983C>T (p.Ala661=)	rs372137571	0.00014
NM_001103.4(ACTN2):c.165C>T (p.Ala55=)	rs193922634	0.00009
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr)	rs370757762	0.00006
NM_001103.4(ACTN2):c.1485G>A (p.Thr495=)	rs201179281	0.00005
NM_001103.4(ACTN2):c.2052C>T (p.Asn684=)	rs202135204	0.00004
NM_001103.4(ACTN2):c.2445C>T (p.Ile815=)	rs397516575	0.00004
NM_001103.4(ACTN2):c.2661A>C (p.Ala887=)	rs760091931	0.00001
NM_001103.4(ACTN2):c.1272G>A (p.Leu424=)	rs1060504998
NM_001103.4(ACTN2):c.698-1180C>T
NM_001103.4(ACTN2):c.784-472A>C
NM_001103.4(ACTN2):c.784-493T>C	rs1658885457

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