ClinVar Miner

List of variants reported as likely benign for congenital myopathy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005577.4(LPA):c.5157C>T (p.Asp1719=) rs41264848 0.02249
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573 0.01505
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306

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