ClinVar Miner

Variants in gene FN1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_212482.4(FN1):c.4486C>T (p.Arg1496Trp) rs139078629 0.00542
NM_212482.4(FN1):c.5435-7T>C rs202045892 0.00068
NM_212482.4(FN1):c.6047C>T (p.Pro2016Leu) rs139452116 0.00034
NM_212482.4(FN1):c.2413A>G (p.Thr805Ala) rs199957523 0.00019
NM_212482.4(FN1):c.869G>A (p.Arg290His) rs150990682 0.00010
NM_212482.4(FN1):c.3289G>A (p.Glu1097Lys) rs753807100 0.00006
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly) rs370343584 0.00004
NM_212482.4(FN1):c.2112A>G (p.Thr704=) rs1326049626 0.00002
NM_212482.4(FN1):c.3951C>T (p.Asp1317=) rs763439987 0.00001

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