ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Duke University Health System Sequencing Clinic, Duke University Health System

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg) rs1565943228
NM_021971.4(GMPPB):c.640+1G>A rs141588721

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