ClinVar Miner

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

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.1072C>T (p.Arg358Ter) rs377443637 0.00001
NM_006996.3(SLC19A2):c.1223+1G>A
NM_006996.3(SLC19A2):c.566_567delinsTCT (p.Ser189fs)
NM_080669.6(SLC46A1):c.1173_1174del (p.Ser393fs)

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