ClinVar Miner

List of variants reported as benign for RFT1-congenital disorder of glycosylation by Invitae

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_052859.4(RFT1):c.1623A>G (p.Thr541=) rs11242 0.47740
NM_052859.4(RFT1):c.267-20A>T rs73840213 0.05900
NM_052859.4(RFT1):c.553G>A (p.Ala185Thr) rs35221142 0.04860
NM_052859.4(RFT1):c.64-14C>T rs78419624 0.01456
NM_052859.4(RFT1):c.436C>T (p.His146Tyr) rs201794647 0.00036
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202 0.00020
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849 0.00009
NM_052859.4(RFT1):c.1208+19A>G rs542117380 0.00001
NM_052859.4(RFT1):c.493G>A (p.Val165Ile) rs571575323 0.00001
NM_052859.4(RFT1):c.267-13dup
NM_052859.4(RFT1):c.267-20del
NM_052859.4(RFT1):c.64-16del rs776377276

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