ClinVar Miner

List of variants in gene CHUK reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001278.5(CHUK):c.386-26T>C rs986266 0.97775
NM_001278.5(CHUK):c.802G>A (p.Val268Ile) rs2230804 0.56266
NM_001278.5(CHUK):c.1129-123G>C rs7909855 0.55304
NM_001278.5(CHUK):c.1129-321C>T rs1327578 0.29351
NM_001278.5(CHUK):c.1974+36T>G rs11597086 0.28844
NM_001278.5(CHUK):c.934-306A>T rs1823624 0.27969
NM_001278.5(CHUK):c.386-139_386-138insT rs3831070 0.10016
NM_001278.5(CHUK):c.475-137A>G rs17112751 0.07810
NM_001278.5(CHUK):c.934-265C>T rs12780177 0.07611
NM_001278.5(CHUK):c.1508-306A>G rs7904293 0.07602
NM_001278.5(CHUK):c.474+209del rs17883056 0.07588
NM_001278.5(CHUK):c.1730-69G>A rs17878999 0.07359
NM_001278.5(CHUK):c.1679+286C>T rs17729417 0.07334
NM_001278.5(CHUK):c.689+79T>G rs3763710 0.07325
NM_001278.5(CHUK):c.475-80C>T rs17886121 0.05755
NM_001278.5(CHUK):c.797+104C>T rs12244615 0.05295
NM_001278.5(CHUK):c.2209-47A>C rs17880060 0.04995
NM_001278.5(CHUK):c.1129-304C>T rs12262250 0.04947
NM_001278.5(CHUK):c.934-104G>T rs11190424 0.04942
NM_001278.5(CHUK):c.386-274T>G rs11190426 0.04936
NM_001278.5(CHUK):c.386-289G>A rs11190427 0.04934
NM_001278.5(CHUK):c.1975-137T>C rs55679482 0.04933
NM_001278.5(CHUK):c.316-121T>C rs11190429 0.04924
NM_001278.5(CHUK):c.1458C>T (p.Ser486=) rs17880383 0.04099
NM_001278.5(CHUK):c.1975-87G>C rs76731979 0.03525
NM_001278.5(CHUK):c.1975-93G>A rs2274174 0.02646
NM_001278.5(CHUK):c.464T>C (p.Val155Ala) rs2230803 0.00276
NM_001278.5(CHUK):c.1827-34G>A rs55716158 0.00271
NM_001278.5(CHUK):c.1827-37C>A rs56291797 0.00271
NM_001278.5(CHUK):c.1036G>A (p.Gly346Arg) rs775436091 0.00003
NM_001278.5(CHUK):c.1231+163G>A rs17883729
NM_001278.5(CHUK):c.1231+220del rs17879862
NM_001278.5(CHUK):c.1958T>G (p.Leu653Arg) rs1057524734
NM_001278.5(CHUK):c.2209-221dup rs34571703

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