ClinVar Miner

List of variants in gene ACTN1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001130004.2(ACTN1):c.672C>T (p.Ala224=) rs73284984 0.00820
NM_001130004.2(ACTN1):c.676+6A>G rs147440695 0.00656
NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg) rs145918825 0.00034
NM_001130004.2(ACTN1):c.1926C>T (p.Ile642=) rs200843690 0.00009
NM_001130004.2(ACTN1):c.516-9C>T rs1390864340 0.00001
NM_001130004.2(ACTN1):c.2140C>T (p.Arg714Cys) rs913554480

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