ClinVar Miner

List of variants studied for congenital muscular dystrophy by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) rs370691060 0.00005
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_000426.4(LAMA2):c.113-639del rs1787824675
NM_005198.5(CHKB):c.1129C>T (p.Arg377Trp) rs766848672

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