List of variants in gene MTR reported as pathogenic by OMIM

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	rs121913578	0.00009
NM_000254.3(MTR):c.1228G>C (p.Ala410Pro)	rs121913582	0.00003
NM_000254.3(MTR):c.1753C>T (p.Arg585Ter)	rs121913580	0.00001
NM_000254.3(MTR):c.340-166A>G	rs1661117141	0.00001
MTR, IVS6AS, G-A, LYS203
NM_000254.3(MTR):c.2114_2115del (p.Leu705fs)	rs797044444
NM_000254.3(MTR):c.2640_2642del (p.Ile881del)	rs797044443
NM_000254.3(MTR):c.2758C>G (p.His920Asp)	rs121913579
NM_000254.3(MTR):c.3380dup (p.Ala1128fs)	rs797044445
NM_000254.3(MTR):c.3613G>T (p.Glu1205Ter)	rs121913581

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