ClinVar Miner

List of variants studied for disorder of metabolite absorption and transport by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006441.4(MTHFS):c.484C>T (p.Gln162Ter) rs771379232 0.00004
NM_006441.4(MTHFS):c.434G>A (p.Arg145Gln) rs753635972 0.00002
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg) rs797045344
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_021244.5(RRAGD):c.227C>T (p.Ser76Leu)

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