List of variants in gene combination ACSM3, THUMPD1 reported as pathogenic by Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)	rs778649204	0.00002
NM_017736.5(THUMPD1):c.341T>G (p.Leu114Ter)	rs1470272788	0.00001
NM_017736.5(THUMPD1):c.303_306del (p.Glu102fs)	rs2152419456
NM_017736.5(THUMPD1):c.469C>T (p.Arg157Ter)	rs2152417926
NM_017736.5(THUMPD1):c.490C>T (p.Pro164Ser)	rs151261045
NM_017736.5(THUMPD1):c.495dup (p.Ser166fs)	rs2152417882
NM_017736.5(THUMPD1):c.634dup (p.Glu212fs)	rs2152417708

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