ClinVar Miner

List of variants reported as likely benign for vitamin B12 deficiency by Natera, Inc.

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_002454.3(MTRR):c.857C>T (p.Thr286Met) rs79430644 0.00198
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452 0.00146
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228 0.00098
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_172250.3(MMAA):c.879A>G (p.Gly293=) rs146352309 0.00072
NM_002454.3(MTRR):c.54C>T (p.Ile18=) rs6413426 0.00062
NM_172250.3(MMAA):c.57A>G (p.Ala19=) rs143211378 0.00035
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn) rs147297426 0.00032
NM_002454.3(MTRR):c.904-4C>G rs370809675 0.00018
NM_002454.3(MTRR):c.138A>G (p.Leu46=) rs200682655 0.00013
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_015506.3(MMACHC):c.*10A>G rs367574509 0.00006
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) rs528744719 0.00006
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala) rs569132013 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_002454.3(MTRR):c.27T>C (p.Ala9=) rs114748706 0.00004
NM_002454.3(MTRR):c.507G>C (p.Val169=) rs367609729 0.00004
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051 0.00004
NM_002454.3(MTRR):c.1080A>C (p.Ile360=) rs969738618 0.00003
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_002454.3(MTRR):c.1179T>C (p.Ser393=) rs1333791112 0.00001
NM_002454.3(MTRR):c.123C>T (p.Ser41=) rs759379396 0.00001
NM_002454.3(MTRR):c.1266C>T (p.Ala422=) rs981600908 0.00001
NM_002454.3(MTRR):c.401+10G>A rs760026002 0.00001
NM_002454.3(MTRR):c.498A>G (p.Ala166=) rs747865209 0.00001
NM_015506.3(MMACHC):c.633C>T (p.Pro211=) rs577804554 0.00001
NM_015702.3(MMADHC):c.585T>C (p.Ile195=) rs757784250 0.00001
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562 0.00001
NM_052845.4(MMAB):c.543G>A (p.Ala181=) rs145411521 0.00001
NM_172250.3(MMAA):c.734-8A>G rs778057240 0.00001
NM_002454.3(MTRR):c.1932C>T (p.Asn644=) rs374659219
NM_002454.3(MTRR):c.2016T>C (p.Val672=) rs1162603124
NM_002454.3(MTRR):c.993G>C (p.Leu331=) rs777698463
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.627G>C (p.Val209=) rs1327886469
NM_015506.3(MMACHC):c.816C>A (p.Pro272=) rs754568180
NM_052845.4(MMAB):c.735C>T (p.Ala245=) rs377015836
NM_172250.3(MMAA):c.1002G>A (p.Gly334=) rs1018880684

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