ClinVar Miner

List of variants in gene ACTA1 reported as likely benign for congenital myopathy

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_001100.4(ACTA1):c.809-18_809-17insT rs776417838 0.00050
NM_001100.4(ACTA1):c.454+11G>A rs551674486 0.00027
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_001100.4(ACTA1):c.546G>A (p.Leu182=) rs369670582 0.00019
NM_001100.4(ACTA1):c.117C>T (p.Arg39=) rs369113039 0.00016
NM_001100.4(ACTA1):c.324C>A (p.Thr108=) rs41271479 0.00011
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
NM_001100.4(ACTA1):c.1065G>A (p.Gln355=) rs375945657 0.00007
NM_001100.4(ACTA1):c.808+13C>T rs539461449 0.00006
NM_001100.4(ACTA1):c.462G>T (p.Val154=) rs746374077 0.00005
NM_001100.4(ACTA1):c.130-11C>G rs202159198 0.00004
NM_001100.4(ACTA1):c.282C>T (p.Asn94=) rs772124885 0.00004
NM_001100.4(ACTA1):c.616+19C>A rs374307939 0.00004
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 0.00003
NM_001100.4(ACTA1):c.454+10C>A rs1259209386 0.00003
NM_001100.4(ACTA1):c.774C>T (p.Arg258=) rs755247915 0.00003
NM_001100.4(ACTA1):c.809-14_809-13insA rs749384329 0.00003
NM_001100.4(ACTA1):c.809-16_809-15insG rs746125735 0.00002
NM_001100.4(ACTA1):c.882C>T (p.Asp294=) rs746042348 0.00002
NM_001100.4(ACTA1):c.1050G>T (p.Ser350=) rs746838863 0.00001
NM_001100.4(ACTA1):c.129+20G>C rs758142768 0.00001
NM_001100.4(ACTA1):c.168G>A (p.Val56=) rs765413340 0.00001
NM_001100.4(ACTA1):c.246T>C (p.Asp82=) rs373785144 0.00001
NM_001100.4(ACTA1):c.24C>A (p.Thr8=) rs762659680 0.00001
NM_001100.4(ACTA1):c.30C>T (p.Leu10=) rs764600500 0.00001
NM_001100.4(ACTA1):c.423G>A (p.Val141=) rs553019935 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001100.4(ACTA1):c.459C>A (p.Ile153=) rs780711799 0.00001
NM_001100.4(ACTA1):c.555C>T (p.Arg185=) rs759606148 0.00001
NM_001100.4(ACTA1):c.588T>C (p.Thr196=) rs770173089 0.00001
NM_001100.4(ACTA1):c.730C>T (p.Leu244=) rs979475402 0.00001
NM_001100.4(ACTA1):c.744G>A (p.Gln248=) rs1331857493 0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
NM_001100.4(ACTA1):c.102G>A (p.Pro34=)
NM_001100.4(ACTA1):c.102G>C (p.Pro34=)
NM_001100.4(ACTA1):c.102G>T (p.Pro34=) rs147303135
NM_001100.4(ACTA1):c.1083G>A (p.Lys361=)
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.1098G>A (p.Glu366=)
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) rs1659932688
NM_001100.4(ACTA1):c.129+15C>T
NM_001100.4(ACTA1):c.130-5_130-4inv
NM_001100.4(ACTA1):c.130-9G>T rs1553255511
NM_001100.4(ACTA1):c.141C>A (p.Val47=) rs535751046
NM_001100.4(ACTA1):c.150T>C (p.Gly50=)
NM_001100.4(ACTA1):c.216T>A (p.Pro72=)
NM_001100.4(ACTA1):c.249C>T (p.Asp83=)
NM_001100.4(ACTA1):c.24C>T (p.Thr8=)
NM_001100.4(ACTA1):c.300C>G (p.Pro100=) rs1571893786
NM_001100.4(ACTA1):c.300C>T (p.Pro100=)
NM_001100.4(ACTA1):c.306G>A (p.Glu102=)
NM_001100.4(ACTA1):c.312C>G (p.Pro104=) rs1289671104
NM_001100.4(ACTA1):c.366C>A (p.Thr122=)
NM_001100.4(ACTA1):c.405C>T (p.Tyr135=)
NM_001100.4(ACTA1):c.441C>T (p.Ser147=) rs1400389136
NM_001100.4(ACTA1):c.454+14del
NM_001100.4(ACTA1):c.454+15C>A rs201388631
NM_001100.4(ACTA1):c.454+18C>G
NM_001100.4(ACTA1):c.455-8G>A rs1456352180
NM_001100.4(ACTA1):c.48C>T (p.Ser16=)
NM_001100.4(ACTA1):c.516G>C (p.Ala172=)
NM_001100.4(ACTA1):c.538C>T (p.Leu180=)
NM_001100.4(ACTA1):c.555C>A (p.Arg185=) rs759606148
NM_001100.4(ACTA1):c.603C>T (p.Ser201=)
NM_001100.4(ACTA1):c.616+13C>T
NM_001100.4(ACTA1):c.616+19C>T rs374307939
NM_001100.4(ACTA1):c.616+20C>A
NM_001100.4(ACTA1):c.617-10C>T
NM_001100.4(ACTA1):c.617-20C>T
NM_001100.4(ACTA1):c.617-8C>T
NM_001100.4(ACTA1):c.624C>A (p.Arg208=)
NM_001100.4(ACTA1):c.627G>A (p.Glu209=)
NM_001100.4(ACTA1):c.63C>T (p.Ala21=)
NM_001100.4(ACTA1):c.645G>A (p.Lys215=) rs1553255420
NM_001100.4(ACTA1):c.651G>A (p.Lys217=)
NM_001100.4(ACTA1):c.652C>T (p.Leu218=)
NM_001100.4(ACTA1):c.693G>A (p.Thr231=) rs1571893071
NM_001100.4(ACTA1):c.723C>T (p.Ser241=)
NM_001100.4(ACTA1):c.726C>T (p.Tyr242=)
NM_001100.4(ACTA1):c.808+16C>G
NM_001100.4(ACTA1):c.808+18T>C
NM_001100.4(ACTA1):c.808+9C>A rs1158027118
NM_001100.4(ACTA1):c.809-11G>A
NM_001100.4(ACTA1):c.809-13_809-12dup rs201427429
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_001100.4(ACTA1):c.809-14G>A
NM_001100.4(ACTA1):c.809-14G>T rs6673359
NM_001100.4(ACTA1):c.809-14_809-13insT
NM_001100.4(ACTA1):c.809-16_809-15insA
NM_001100.4(ACTA1):c.809-18_809-17insG
NM_001100.4(ACTA1):c.809-19T>A
NM_001100.4(ACTA1):c.906G>A (p.Ser302=)
NM_001100.4(ACTA1):c.93C>T (p.Ala31=)
NM_001100.4(ACTA1):c.960C>T (p.Thr320=) rs1571892542
NM_001100.4(ACTA1):c.963G>A (p.Ala321=) rs374599062
NM_001100.4(ACTA1):c.963G>C (p.Ala321=) rs374599062
NM_001100.4(ACTA1):c.963G>T (p.Ala321=)
NM_001100.4(ACTA1):c.984G>A (p.Lys328=) rs398122936
NM_001100.4(ACTA1):c.990+10G>C
NM_001100.4(ACTA1):c.990+6TGG[3] rs2102735162
NM_001100.4(ACTA1):c.991-12G>C
NM_001100.4(ACTA1):c.991-12G>T
NM_001100.4(ACTA1):c.991-14G>C
NM_001100.4(ACTA1):c.991-14G>T

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