ClinVar Miner

List of variants in gene F2 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_000506.5(F2):c.1541A>G (p.Asn514Ser) rs144011338 0.00056
NM_000506.5(F2):c.1464G>A (p.Thr488=) rs146742525 0.00055
NM_000506.5(F2):c.191C>T (p.Thr64Met) rs142001812 0.00051
NM_000506.5(F2):c.234G>A (p.Thr78=) rs151121282 0.00031
NM_000506.5(F2):c.371G>A (p.Arg124Gln) rs139148365 0.00022
NM_000506.5(F2):c.495G>A (p.Thr165=) rs144857547 0.00021
NM_000506.5(F2):c.798C>T (p.Asp266=) rs138260543 0.00019
NM_000506.5(F2):c.559+5G>A rs376151472 0.00014
NM_000506.5(F2):c.*9T>G rs201577861 0.00011
NM_000506.5(F2):c.317-4G>A rs375713715 0.00009
NM_000506.5(F2):c.1815T>C (p.His605=) rs368442575 0.00006
NM_000506.5(F2):c.978G>A (p.Pro326=) rs142949009 0.00005
NM_000506.5(F2):c.285G>A (p.Thr95=) rs147892497 0.00004
NM_000506.5(F2):c.814G>A (p.Val272Met) rs199558597 0.00004
NM_000506.5(F2):c.992C>T (p.Ser331Leu) rs200812621 0.00004
NM_000506.5(F2):c.*44G>T rs759287343 0.00003
NM_000506.5(F2):c.874+13G>A rs764029414 0.00003
NM_000506.5(F2):c.882C>T (p.Ala294=) rs370819135 0.00002
NM_000506.5(F2):c.1037C>T (p.Ser346Leu) rs552341778 0.00001
NM_000506.5(F2):c.730G>T (p.Ala244Ser) rs886048334 0.00001
NM_000506.5(F2):c.915G>A (p.Glu305=) rs886048335 0.00001
NM_000506.4(F2):c.*100C>A rs112016113
NM_000506.5(F2):c.1093G>T (p.Val365Leu)
NM_000506.5(F2):c.1131-5C>T rs1255363601
NM_000506.5(F2):c.124C>T (p.Arg42Trp)
NM_000506.5(F2):c.1277T>C (p.Ile426Thr)
NM_000506.5(F2):c.1351C>A (p.Pro451Thr)
NM_000506.5(F2):c.1411C>A (p.Pro471Thr)
NM_000506.5(F2):c.1472+9C>T rs886048336
NM_000506.5(F2):c.1567C>T (p.Leu523=) rs886048337
NM_000506.5(F2):c.1598G>A (p.Arg533Gln) rs1361766713
NM_000506.5(F2):c.1621C>A (p.Arg541=) rs886048338
NM_000506.5(F2):c.45G>A (p.Leu15=) rs886048333
NM_000506.5(F2):c.517G>C (p.Asp173His)
NM_000506.5(F2):c.533G>T (p.Arg178Met) rs2134528259
NM_000506.5(F2):c.558T>C (p.Cys186=)
NM_000506.5(F2):c.607A>G (p.Ser203Gly) rs2064868698
NM_000506.5(F2):c.650G>A (p.Arg217Gln)
NM_000506.5(F2):c.934G>A (p.Glu312Lys)
NM_000506.5(F2):c.954T>G (p.Ser318Arg) rs2134532792

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