List of variants in gene MTR reported as likely benign for Disorders of Intracellular Cobalamin Metabolism

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000254.3(MTR):c.*2879G>A	rs74992803	0.02599
NM_000254.3(MTR):c.*4461T>G	rs113118968	0.02599
NM_000254.3(MTR):c.*3322C>G	rs76520920	0.02032
NM_000254.3(MTR):c.3683_3684insTTAA	rs149280661	0.01046
NM_000254.3(MTR):c.*3493A>G	rs41304165	0.00626
NM_000254.3(MTR):c.*2887C>G	rs141686413	0.00586
NM_000254.3(MTR):c.858C>T (p.Pro286=)	rs146019467	0.00576
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)	rs12749581	0.00417
NM_000254.3(MTR):c.*5000T>G	rs145360296	0.00412
NM_000254.3(MTR):c.1076-8C>T	rs115186224	0.00321
NM_000254.3(MTR):c.*465T>A	rs114724980	0.00317
NM_000254.3(MTR):c.*1744A>G	rs114324996	0.00308
NM_000254.3(MTR):c.*286C>T	rs78201060	0.00268
NM_000254.3(MTR):c.1485G>A (p.Met495Ile)	rs2229275	0.00265
NM_000254.3(MTR):c.*4823G>A	rs74322958	0.00242
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp)	rs116836001	0.00235
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr)	rs146071220	0.00203
NM_000254.3(MTR):c.*287G>A	rs149786323	0.00181
NM_000254.3(MTR):c.*4443C>T	rs189875201	0.00171
NM_000254.3(MTR):c.*773T>G	rs74936029	0.00158
NM_000254.3(MTR):c.*3788A>C	rs184684509	0.00108
NM_000254.3(MTR):c.*2538A>G	rs148021206	0.00073
NM_000254.3(MTR):c.*1134G>A	rs545746282	0.00036
NM_000254.3(MTR):c.*1133C>T	rs543533866	0.00029
NM_000254.3(MTR):c.*1451T>G	rs147859146	0.00014
NM_000254.3(MTR):c.*4293C>T	rs532989425	0.00010
NM_000254.3(MTR):c.3141C>T (p.Tyr1047=)	rs560615373	0.00007
NM_000254.3(MTR):c.1076-11C>T	rs186367553	0.00006
NM_000254.3(MTR):c.2772C>G (p.Leu924=)	rs533541925	0.00002
NM_000254.3(MTR):c.3598+15G>A	rs754129736	0.00002
NM_000254.3(MTR):c.*5194AAAAC[3]	rs141529013

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