ClinVar Miner

List of variants reported as uncertain significance for congenital myopathy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_001005361.3(DNM2):c.822G>A (p.Thr274=) rs201763720 0.00014
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=) rs371412466 0.00013
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=) rs554971107 0.00006
NM_139343.3(BIN1):c.1461C>T (p.Ser487=) rs34647988 0.00004
NM_000252.3(MTM1):c.1353G>A (p.Gln451=) rs587783781
NM_000252.3(MTM1):c.137-7T>G rs587783784
NM_000252.3(MTM1):c.141A>G (p.Lys47=) rs587783790
NM_000252.3(MTM1):c.526C>A (p.Gln176Lys) rs587783829
NM_139343.3(BIN1):c.957C>A (p.Ala319=) rs2276579
NM_139343.3(BIN1):c.957C>G (p.Ala319=) rs2276579

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