ClinVar Miner

List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr) rs137927542 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_000183.3(HADHB):c.491G>A (p.Gly164Asp) rs1558356679
NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter) rs1562137622
NM_001267550.2(TTN):c.46304+6C>T rs772406721
NM_001267550.2(TTN):c.48426T>A (p.Tyr16142Ter) rs1576476485
NM_201384.3(PLEC):c.1419-10G>T rs1827885925

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