ClinVar Miner

List of variants reported as uncertain significance for RFT1-CDG by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys) rs138803905
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901
NM_052859.4(RFT1):c.1455G>A (p.Ser485=) rs767866491
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr) rs1045604063
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro)

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