ClinVar Miner

List of variants studied for disorder of vitamin and non-protein cofactor absorption and transport by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113 0.00006
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726 0.00003
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886 0.00002
NM_005957.5(MTHFR):c.1316T>C (p.Leu439Pro) rs545086633 0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536 0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787 0.00001
NM_005957.5(MTHFR):c.1429C>T (p.Gln477Ter)
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter) rs986604359
NM_005957.5(MTHFR):c.976G>A (p.Glu326Lys)
NM_052845.4(MMAB):c.584+2T>C

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