List of variants in gene ACTN2 reported as uncertain significance for Hypertrophic cardiomyopathy

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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.*396G>A	rs181994486	0.00359
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.1484C>T (p.Thr495Met)	rs200248944	0.00027
NM_001103.4(ACTN2):c.1406+8C>T	rs397516567	0.00026
NM_001103.4(ACTN2):c.1274_1275del	rs771809993	0.00007
NM_001103.4(ACTN2):c.-3G>T	rs201920417	0.00003
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys)	rs397516574	0.00002
NM_001103.4(ACTN2):c.1342G>A (p.Glu448Lys)	rs764031568	0.00001
NM_001103.4(ACTN2):c.-98CGCCGCC[4]	rs552471202
NM_001103.4(ACTN2):c.1031A>C (p.Asn344Thr)	rs886046206
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala)	rs200631005
NM_001103.4(ACTN2):c.18C>A (p.Pro6=)	rs368367224
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser)	rs1558232396

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