ClinVar Miner

List of variants reported as benign for alpha-actinopathy

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.455-53A>C rs527621 0.99850
NM_001100.4(ACTA1):c.-65T>C rs605430 0.63378
NM_001100.4(ACTA1):c.-66C>T rs605428 0.63361
NM_152263.4(TPM3):c.776-49T>C rs4845364 0.62465
NM_001100.4(ACTA1):c.130-5T>C rs11803533 0.26938
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
NM_152263.4(TPM3):c.*2409G>C rs142369480 0.01426
NM_152263.4(TPM3):c.*1791G>A rs114799756 0.01222
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_152263.4(TPM3):c.92A>C (p.Lys31Thr) rs62000429 0.00596
NM_152263.4(TPM3):c.*2069C>T rs140536164 0.00588
NM_152263.4(TPM3):c.566+18C>G rs111368844 0.00505
NM_001100.4(ACTA1):c.617-5C>T rs199804338 0.00399
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_152263.4(TPM3):c.*1291A>G rs375670563 0.00006
NM_152263.4(TPM3):c.327T>G (p.Thr109=) rs764255899 0.00005
NM_152263.4(TPM3):c.495+7G>C rs749792884 0.00004
NM_001100.4(ACTA1):c.129+16C>T rs148084911
NM_001100.4(ACTA1):c.130-20G>T rs201437341
NM_001100.4(ACTA1):c.454+15C>T rs201388631
NM_001100.4(ACTA1):c.809-13dup rs201427429
NM_001100.4(ACTA1):c.809-14G>C rs6673359
NM_001100.4(ACTA1):c.809-18dup rs398123565
NM_001100.4(ACTA1):c.809-3del
NM_152263.4(TPM3):c.243+11GA[2] rs146969764

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