ClinVar Miner

List of variants reported as likely benign for Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F by Counsyl

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00006
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000337.6(SGCD):c.177C>T (p.Val59=) rs727505265
NM_000337.6(SGCD):c.383-35_383-34insA rs1554119750
NM_000337.6(SGCD):c.383-47CTCTCTC[4] rs780744816

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