ClinVar Miner

List of variants reported as uncertain significance for congenital myopathy by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys) rs199907781 0.00013
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu) rs398124131 0.00003
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp) rs757075255 0.00002
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg) rs2145874187
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu) rs1057524519
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) rs2145978260
NM_152263.4(TPM3):c.329C>T (p.Ala110Val) rs1558052023

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