ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by GeneDx

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.1503_1508dup (p.500_501RE[4]) rs727502853
NM_013382.7(POMT2):c.-47_-44del rs368351148

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