List of variants in gene FN1 reported as pathogenic for Spondylometaphyseal dysplasia - Sutcliffe type

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_212482.4(FN1):c.260G>T (p.Cys87Phe)	rs1553669703
NM_212482.4(FN1):c.261C>G (p.Cys87Trp)	rs753456938
NM_212482.4(FN1):c.367T>C (p.Cys123Arg)	rs1553667072
NM_212482.4(FN1):c.675C>G (p.Cys225Trp)	rs1181638652
NM_212482.4(FN1):c.685+1G>C	rs113683179
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)	rs1553659131

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