ClinVar Miner

List of variants studied for vitamin B12 deficiency by Pars Genome Lab

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.348+105T>C rs10850380 0.58164
NM_052845.4(MMAB):c.584+254A>G rs2058805 0.58162
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_052845.4(MMAB):c.290+63T>C rs11836136 0.32654
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_172250.3(MMAA):c.734-74G>A rs11721510 0.28813
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_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553 0.07844
NM_052845.4(MMAB):c.584+24A>G rs78599682 0.07555
NM_172250.3(MMAA):c.-56A>G rs4835011 0.06388
NM_052845.4(MMAB):c.135-23T>C rs66580225 0.05340
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655 0.04892
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513

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