List of variants reported as likely pathogenic for Alpha-actinopathy

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)	rs1553255312
NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala)	rs121909528
NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln)	rs2102735038
NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro)	rs1553255301
NM_001100.4(ACTA1):c.1058C>T (p.Thr353Ile)
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys)	rs587777354
NM_001100.4(ACTA1):c.1092del (p.Glu363_Tyr364insTer)
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)	rs1571892196
NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn)	rs1085308014
NM_001100.4(ACTA1):c.175G>A (p.Glu59Lys)
NM_001100.4(ACTA1):c.304G>A (p.Glu102Lys)	rs1057520216
NM_001100.4(ACTA1):c.355G>C (p.Glu119Gln)
NM_001100.4(ACTA1):c.414C>G (p.Ile138Met)	rs121909526
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)	rs371410845
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser)	rs398123563
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg)	rs398123563
NM_001100.4(ACTA1):c.443G>T (p.Gly148Val)
NM_001100.4(ACTA1):c.936del (p.Asp313fs)

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