ClinVar Miner

List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_000540.3(RYR1):c.10882C>G (p.Arg3628Gly)
NM_000540.3(RYR1):c.7639GCGCTG[3] (p.Leu2550_Asn2551insAlaLeu)
NM_001164508.2(NEB):c.11601+5G>A
NM_001267550.2(TTN):c.106374G>A (p.Lys35458=) rs2154132585
NM_001267550.2(TTN):c.35713+1G>A rs2066160245
NM_001267550.2(TTN):c.99643C>T (p.Arg33215Trp)

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