ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg) rs1251044974 0.00001
NM_000023.4(SGCA):c.434C>A (p.Ala145Glu) rs372046855
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) rs1905254738
NM_000070.3(CAPN3):c.679G>C (p.Ala227Pro) rs1595822648
NM_000182.5(HADHA):c.2134_2138dup (p.Gly715fs) rs1669501514
NM_000231.3(SGCG):c.613_614delinsTT (p.Ala205Phe) rs1883002814
NM_002693.3(POLG):c.2678C>T (p.Ser893Phe) rs1596352300
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg) rs1484810169
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter) rs139562274
NM_005138.3(SCO2):c.202G>A (p.Gly68Arg)
NM_005138.3(SCO2):c.227_230del (p.Leu76fs)
NM_005138.3(SCO2):c.533C>T (p.Ala178Val)
NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)
NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys) rs111033574

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