ClinVar Miner

List of variants reported as pathogenic for congenital myopathy by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001256007.3(PNPLA8):c.517G>T (p.Glu173Ter) rs1462456361
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) rs1027855768
NM_002478.5(MYOD1):c.557dup (p.Arg188fs) rs1179926739
NM_004369.4(COL6A3):c.7382del (p.Ala2461fs) rs2106324972
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs) rs727502799

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