ClinVar Miner

List of variants studied for Homocystinuria due to methylene tetrahydrofolate reductase deficiency by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001010881.2(C1orf167):c.3824G>A (p.Ser1275Asn) rs371188005
NM_005957.5(MTHFR):c.1621G>T (p.Val541Phe) rs1644131560
NM_005957.5(MTHFR):c.552del (p.Ser184fs) rs1644354028

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