ClinVar Miner

List of variants studied for methylmalonic aciduria and homocystinuria by Natera, Inc.

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu) rs143753228 0.00098
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035 0.00063
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp) rs113390214 0.00055
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr) rs61755260 0.00029
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu) rs201601241 0.00014
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala) rs754862915 0.00013
NM_015702.3(MMADHC):c.10-9C>G rs376032730 0.00013
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863 0.00010
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732 0.00009
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_015506.3(MMACHC):c.733T>C (p.Ser245Pro) rs779575471 0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717 0.00004
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_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618 0.00002
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter) rs397509363 0.00002
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861 0.00002
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys) rs374086070 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015506.3(MMACHC):c.633C>T (p.Pro211=) rs577804554 0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=) rs369621922 0.00001
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr) rs755472574 0.00001
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys) rs756550492 0.00001
NM_015702.3(MMADHC):c.585T>C (p.Ile195=) rs757784250 0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys) rs544727246 0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys) rs118204046 0.00001
NM_015702.3(MMADHC):c.855A>T (p.Pro285=) rs768988562 0.00001
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro) rs775502093
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val) rs1553162829
NM_015506.3(MMACHC):c.319G>A (p.Val107Met) rs758730415
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln) rs369335868
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr) rs1643678565
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys) rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter) rs1399932916
NM_015506.3(MMACHC):c.627G>C (p.Val209=) rs1327886469
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His) rs755843695
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly) rs199641732
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.81+1G>A rs745366624
NM_015506.3(MMACHC):c.816C>A (p.Pro272=) rs754568180
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val) rs533388008
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter) rs886039425
NM_015702.3(MMADHC):c.609+6T>C rs1682704400
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe) rs549522925
NM_015702.3(MMADHC):c.846T>C (p.Asn282=) rs559044965
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg) rs1401528755

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