List of variants in gene FERMT3 reported as pathogenic for immune system disorder

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

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg)	rs748770309	0.00012
NM_031471.6(FERMT3):c.1275del (p.Glu426fs)	rs775138431	0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter)	rs121918297	0.00001
NM_031471.6(FERMT3):c.1029+2T>C	rs1591038507
NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter)	rs121918295
NM_031471.6(FERMT3):c.1601_1602del (p.Glu534fs)
NM_031471.6(FERMT3):c.161-2A>C	rs1286499329
NM_031471.6(FERMT3):c.1671-2A>G	rs2134903776
NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter)	rs121918296
NM_031471.6(FERMT3):c.540del (p.Met181fs)	rs2134845306
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs)	rs1591028090
NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter)	rs121918298
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs)	rs1591037806
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs)
NM_031471.6(FERMT3):c.921del (p.Ser307fs)	rs2134880586

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