ClinVar Miner

List of variants studied for Methylcobalamin deficiency type cblE by Pars Genome Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44938
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
NM_002454.2(MTRR):c.-119T>C rs72716536 0.16355
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347

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