ClinVar Miner

List of variants reported as pathogenic for nutritional disorder by Counsyl

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229 0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016 0.00003
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter) rs796051992 0.00003
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter) rs772791252 0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789 0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter) rs999844958 0.00002
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687 0.00001
NM_001370658.1(BTD):c.583C>T (p.Leu195Phe) rs190386869 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357 0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448 0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter) rs104893846 0.00001
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter) rs1029096863 0.00001
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter) rs765799472 0.00001
NM_001352514.2(HLCS):c.1223del (p.Gly408fs) rs771944310
NM_001370658.1(BTD):c.1066C>T (p.Gln356Ter) rs760612966
NM_001370658.1(BTD):c.1448_1452del (p.Gly483fs) rs398123138
NM_001370658.1(BTD):c.406C>T (p.Gln136Ter) rs397514362
NM_001370658.1(BTD):c.992del (p.Thr331fs) rs397514398
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_172250.3(MMAA):c.450dup (p.Pro151fs) rs754973022
NM_172250.3(MMAA):c.551dup (p.Cys184fs) rs1553958159
NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter) rs1553957883
NM_172250.3(MMAA):c.970-2A>T rs1553959113

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