ClinVar Miner

List of variants studied for Budd-Chiari syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_000130.5(F5):c.2129A>G (p.His710Arg) rs115954845 0.00366
NM_000130.5(F5):c.4923C>T (p.Leu1641=) rs116809837 0.00272
NM_000130.5(F5):c.6554A>G (p.Lys2185Arg) rs6679078 0.00271
NM_000130.5(F5):c.3162A>C (p.Glu1054Asp) rs149026031 0.00216
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_004972.4(JAK2):c.1641+6T>C rs182123615 0.00109
NM_004972.4(JAK2):c.380G>A (p.Gly127Asp) rs56118985 0.00048
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_000130.5(F5):c.3952C>A (p.Gln1318Lys) rs538359973 0.00001

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