List of variants in gene ACTN1 reported as likely benign for Platelet-type bleeding disorder 15

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg)	rs145918825	0.00034
NM_001130004.2(ACTN1):c.2126C>T (p.Thr709Ile)	rs188284396	0.00004
NM_001130004.2(ACTN1):c.2108A>G (p.Asn703Ser)	rs751123192	0.00001
NM_001130004.2(ACTN1):c.127T>G (p.Ser43Ala)
NM_001130004.2(ACTN1):c.2614C>T (p.Arg872Cys)

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