ClinVar Miner

Variants in gene F5 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000130.5(F5):c.4095C>T (p.Thr1365=) rs9332607 0.29522
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000130.5(F5):c.3853C>A (p.Leu1285Ile) rs1046712 0.16155
NM_000130.5(F5):c.730+7C>T rs6023 0.05754
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036 0.00389
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_000130.5(F5):c.1021C>T (p.Arg341Cys) rs200532195 0.00076
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) rs141977229 0.00075
NM_000130.5(F5):c.1785G>A (p.Glu595=) rs112333778 0.00066
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000130.5(F5):c.5419+11C>G rs6008

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