ClinVar Miner

List of variants in gene MTR reported as pathogenic for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
MTR, IVS3AS, A-G, -166
MTR, IVS6AS, G-A, LYS203
NC_000001.10:g.(?_236958984)_(237060964_?)del
NM_000254.2(MTR):c.1228G>C (p.Ala410Pro) rs121913582
NM_000254.2(MTR):c.1753C>T (p.Arg585Ter) rs121913580
NM_000254.2(MTR):c.1992_1993insATCA (p.Glu665fs)
NM_000254.2(MTR):c.2112_2113TC[1] (p.Leu705fs) rs797044444
NM_000254.2(MTR):c.2476del (p.Asp825_Ile826insTer)
NM_000254.2(MTR):c.2640_2642del (p.Ile881del) rs797044443
NM_000254.2(MTR):c.2758C>G (p.His920Asp) rs121913579
NM_000254.2(MTR):c.3380dup (p.Ala1128fs) rs797044445
NM_000254.2(MTR):c.3439C>T (p.Arg1147Ter)
NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu) rs121913578
NM_000254.2(MTR):c.3613G>T (p.Glu1205Ter) rs121913581

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