ClinVar Miner

List of variants reported as likely benign for disorder of vitamin and non-protein cofactor absorption and transport by Natera, Inc.

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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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_005957.5(MTHFR):c.1264G>A (p.Gly422Arg) rs45571736 0.00300
NM_005957.5(MTHFR):c.1408G>C (p.Glu470Gln) rs139645527 0.00242
NM_005957.5(MTHFR):c.348C>T (p.Ala116=) rs144921426 0.00217
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_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 0.00118
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_005957.5(MTHFR):c.732C>T (p.Thr244=) rs45486194 0.00082
NM_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) rs145641996 0.00073
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_005957.5(MTHFR):c.1281T>C (p.Ser427=) rs149533586 0.00029
NM_005957.5(MTHFR):c.513C>A (p.Gly171=) rs150963282 0.00019
NM_005957.5(MTHFR):c.870C>T (p.Asn290=) rs141769179 0.00019
NM_002454.3(MTRR):c.904-4C>G rs370809675 0.00018
NM_005957.5(MTHFR):c.762C>T (p.Pro254=) rs200789362 0.00016
NM_002454.3(MTRR):c.138A>G (p.Leu46=) rs200682655 0.00013
NM_005957.5(MTHFR):c.726A>G (p.Ala242=) rs45459991 0.00011
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_005957.5(MTHFR):c.1378C>T (p.Leu460=) rs200180238 0.00005
NM_005957.5(MTHFR):c.1626T>C (p.Asn542=) rs190046545 0.00005
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_005957.5(MTHFR):c.1134C>T (p.Thr378=) rs767306503 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_005957.5(MTHFR):c.18A>G (p.Arg6=) rs748686763 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_005957.5(MTHFR):c.157T>C (p.Leu53=) rs1205350004 0.00001
NM_005957.5(MTHFR):c.1641C>T (p.Asn547=) rs764655005 0.00001
NM_005957.5(MTHFR):c.522C>T (p.Tyr174=) rs941382680 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_005957.5(MTHFR):c.1832A>G (p.Tyr611Cys) rs756615138
NM_005957.5(MTHFR):c.615G>A (p.Gly205=) rs779138021
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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