ClinVar Miner

List of variants in gene combination ATXN7L3, UBTF reported by GeneDx

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_014233.4(UBTF):c.59-143C>T rs2269907 0.51411
NM_014233.4(UBTF):c.660+172C>T rs2855818 0.38453
NM_014233.4(UBTF):c.1599G>A (p.Lys533=) rs2071167 0.36454
NM_014233.4(UBTF):c.1086C>T (p.Leu362=) rs2228196 0.05043
NM_014233.4(UBTF):c.475-129G>A rs73983959 0.02125
NM_014233.4(UBTF):c.905+27C>T rs79497010 0.02007
NM_014233.4(UBTF):c.318+29G>A rs115183012 0.01902
NM_014233.4(UBTF):c.-67-1G>C rs571833610 0.00001
NM_014233.4(UBTF):c.1775C>T (p.Pro592Leu) rs1439246240 0.00001
NM_014233.4(UBTF):c.497A>G (p.Gln166Arg) rs1426632040 0.00001
NM_014233.4(UBTF):c.*141del rs374363130
NM_014233.4(UBTF):c.1047+1G>A rs1236405535
NM_014233.4(UBTF):c.1066G>A (p.Val356Met) rs2509931447
NM_014233.4(UBTF):c.148G>A (p.Glu50Lys) rs1260565805
NM_014233.4(UBTF):c.14C>G (p.Ala5Gly) rs2509940087
NM_014233.4(UBTF):c.1516-1G>C
NM_014233.4(UBTF):c.1518T>G (p.Asn506Lys)
NM_014233.4(UBTF):c.1587G>A (p.Met529Ile) rs2509929090
NM_014233.4(UBTF):c.159G>C (p.Met53Ile) rs2509938488
NM_014233.4(UBTF):c.166G>T (p.Glu56Ter) rs2144552289
NM_014233.4(UBTF):c.1709C>T (p.Pro570Leu) rs2509928130
NM_014233.4(UBTF):c.1906-182del rs57107684
NM_014233.4(UBTF):c.1906-191_1906-182del rs57107684
NM_014233.4(UBTF):c.1906-192_1906-182del rs57107684
NM_014233.4(UBTF):c.2002C>T (p.Arg668Trp)
NM_014233.4(UBTF):c.2014C>T (p.Gln672Ter) rs1555577265
NM_014233.4(UBTF):c.2088TGA[1] (p.Asp697del)
NM_014233.4(UBTF):c.2104_2105dup (p.Ser703fs) rs2144522644
NM_014233.4(UBTF):c.2125T>C (p.Ser709Pro)
NM_014233.4(UBTF):c.2212G>A (p.Asp738Asn)
NM_014233.4(UBTF):c.235-26C>G rs76052008
NM_014233.4(UBTF):c.271G>C (p.Asp91His) rs2509937333
NM_014233.4(UBTF):c.292A>G (p.Asn98Asp)
NM_014233.4(UBTF):c.335C>T (p.Pro112Leu)
NM_014233.4(UBTF):c.349A>T (p.Thr117Ser)
NM_014233.4(UBTF):c.443A>G (p.Lys148Arg)
NM_014233.4(UBTF):c.474+5G>T rs2509937020
NM_014233.4(UBTF):c.520C>T (p.Arg174Ter)
NM_014233.4(UBTF):c.59-126C>G rs2269908
NM_014233.4(UBTF):c.618G>T (p.Trp206Cys)
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014233.4(UBTF):c.6C>G (p.Asn2Lys)
NM_014233.4(UBTF):c.724_725del (p.Arg242fs)
NM_014233.4(UBTF):c.769G>A (p.Glu257Lys)
NM_014233.4(UBTF):c.81G>A (p.Met27Ile) rs2144552424
NM_014233.4(UBTF):c.906-3T>A rs371272757
NM_014233.4(UBTF):c.924C>G (p.Tyr308Ter) rs1567797466

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