List of variants in gene combination LOC129936883, RFT1 reported as likely benign for RFT1-congenital disorder of glycosylation

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp)	rs185366134	0.00187
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys)	rs148716754	0.00058
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp)	rs151322409	0.00003
NM_052859.4(RFT1):c.63+8C>G	rs1022161995	0.00001
NM_052859.4(RFT1):c.18G>T (p.Val6=)
NM_052859.4(RFT1):c.24C>G (p.Gly8=)	rs2107183365
NM_052859.4(RFT1):c.27C>T (p.His9=)
NM_052859.4(RFT1):c.30G>A (p.Ala10=)
NM_052859.4(RFT1):c.33C>T (p.Ala11=)
NM_052859.4(RFT1):c.34C>A (p.Arg12=)
NM_052859.4(RFT1):c.54C>T (p.Leu18=)
NM_052859.4(RFT1):c.58C>T (p.Leu20=)
NM_052859.4(RFT1):c.63+11C>A
NM_052859.4(RFT1):c.63+12C>T	rs755841835
NM_052859.4(RFT1):c.63+19G>T	rs2107182991
NM_052859.4(RFT1):c.63+20T>C

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