ClinVar Miner

List of variants in gene MTRR reported as likely pathogenic for homocystinuria

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.1554_1557+3del rs754619743 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(?_7885880)_(7887275_?)del
NC_000005.9:g.(?_7889198)_(7897370_?)del
NM_002454.3(MTRR):c.1146+1G>C rs772608494
NM_002454.3(MTRR):c.130-1G>A
NM_002454.3(MTRR):c.1327+1G>A
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1676+2T>C
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1A>G (p.Met1Val) rs1747827267
NM_002454.3(MTRR):c.283+1G>A
NM_002454.3(MTRR):c.283+1_283+20del rs1748371268
NM_002454.3(MTRR):c.401+2_401+7del rs2126676051
NM_002454.3(MTRR):c.402-1G>C
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.402-2A>G rs2126692827
NM_002454.3(MTRR):c.781-2A>C
NM_002454.3(MTRR):c.781-2A>T
NM_002454.3(MTRR):c.903+1G>A
NM_002454.3(MTRR):c.904-1G>T
NM_002454.3(MTRR):c.904-2A>G
NM_002454.3(MTRR):c.916del (p.Ser306fs) rs1212701617
NM_002454.3(MTRR):c.973_1146+462del

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