List of variants in gene FN1, LOC126806497 studied for Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_212482.4(FN1):c.4146A>G (p.Pro1382=)	rs114987066	0.00296
NM_212482.4(FN1):c.4175G>A (p.Arg1392His)	rs745854917	0.00009
NM_212482.4(FN1):c.4070-11T>C	rs768537622	0.00004
NM_212482.4(FN1):c.4143C>T (p.Pro1381=)	rs767010734	0.00002
NM_212482.4(FN1):c.4161C>A (p.Thr1387=)	rs370663743	0.00002
NM_212482.4(FN1):c.4123C>T (p.Arg1375Cys)	rs778853423	0.00001
NM_212482.4(FN1):c.4111C>G (p.Pro1371Ala)
NM_212482.4(FN1):c.4120A>G (p.Met1374Val)
NM_212482.4(FN1):c.4160C>T (p.Thr1387Ile)
NM_212482.4(FN1):c.4174C>T (p.Arg1392Cys)	rs1367426886
NM_212482.4(FN1):c.4198G>A (p.Glu1400Lys)
NM_212482.4(FN1):c.4217C>T (p.Ser1406Leu)	rs1334066739
NM_212482.4(FN1):c.4240G>A (p.Val1414Met)

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