ClinVar Miner

List of variants in gene MTR reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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MTR, IVS3AS, A-G, -166
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.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
NM_001291939.1(MTR):c.2044-1041_2044-1040del rs797044444

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