List of variants in gene TIMMDC1 studied for skeletal muscle disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016589.4(TIMMDC1):c.578T>C (p.Ile193Thr)	rs368184254	0.00003
NM_016589.4(TIMMDC1):c.745A>G (p.Lys249Glu)	rs779953541	0.00002
NM_016589.4(TIMMDC1):c.175C>T (p.Arg59Trp)	rs774619141	0.00001
NM_016589.4(TIMMDC1):c.674G>A (p.Arg225Gln)	rs761981569	0.00001
NM_016589.4(TIMMDC1):c.191_192del (p.Lys64fs)

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