ClinVar Miner

List of variants studied for congenital muscular dystrophy by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
NM_000426.4(LAMA2):c.3924+2T>C rs1554269966
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs) rs587777819
NM_032237.5(POMK):c.325C>T (p.Gln109Ter) rs587777423

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