ClinVar Miner

List of variants studied for RFT1-CDG by OMIM

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP
NM_052859.4(RFT1):c.1222A>G (p.Met408Val) rs796053522
NM_052859.4(RFT1):c.1325G>A (p.Arg442Gln) rs749968109
NM_052859.4(RFT1):c.199C>T (p.Arg67Cys) rs118203913
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu) rs763862849
NM_052859.4(RFT1):c.887T>A (p.Ile296Lys) rs772820136
NM_052859.4(RFT1):c.887T>G (p.Ile296Arg) rs772820136
NM_052859.4(RFT1):c.892G>A (p.Glu298Lys) rs796053521

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