ClinVar Miner

List of variants in gene APTX studied for DNA repair disease

Included ClinVar conditions (106):
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Gene type:
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Total variants: 63
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HGVS dbSNP
NC_000009.12:g.(?_32973498)_(33001604_?)del
NM_001195248.2(APTX):c.*141G>A
NM_001195248.2(APTX):c.*187G>C rs113638548
NM_001195248.2(APTX):c.*215G>C
NM_001195248.2(APTX):c.*293C>G
NM_001195248.2(APTX):c.*310G>A
NM_001195248.2(APTX):c.*363C>T rs886063857
NM_001195248.2(APTX):c.*454G>C rs138490250
NM_001195248.2(APTX):c.*476C>T
NM_001195248.2(APTX):c.*605G>A rs545625482
NM_001195248.2(APTX):c.*606G>A rs111430445
NM_001195248.2(APTX):c.*610G>C
NM_001195248.2(APTX):c.*636C>T
NM_001195248.2(APTX):c.*756G>A
NM_001195248.2(APTX):c.*806G>A rs113556331
NM_001195248.2(APTX):c.*858C>G rs772290850
NM_001195248.2(APTX):c.-45C>G rs371868908
NM_001195248.2(APTX):c.-5+4337A>G
NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) rs201912053
NM_001195248.2(APTX):c.134-12A>C rs113391831
NM_001195248.2(APTX):c.183A>G (p.Val61=) rs150506419
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460
NM_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp) rs886063858
NM_001195248.2(APTX):c.38G>A (p.Arg13Gln)
NM_001195248.2(APTX):c.3G>A (p.Met1Ile)
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001195248.2(APTX):c.46C>T (p.Arg16Ter)
NM_001195248.2(APTX):c.484-12T>G rs1981011
NM_001195248.2(APTX):c.484-13G>T rs10123944
NM_001195248.2(APTX):c.484-1G>T rs1563963464
NM_001195248.2(APTX):c.484-25_484-4del rs778542759
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-25_484-6del rs771925873
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG rs1554664711
NM_001195248.2(APTX):c.496C>T (p.His166Tyr)
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559
NM_001195248.2(APTX):c.544-4C>T rs201736194
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026
NM_001195248.2(APTX):c.602A>G (p.His201Arg) rs121908133
NM_001195248.2(APTX):c.617C>T (p.Pro206Leu) rs121908131
NM_001195248.2(APTX):c.618G>T (p.Pro206=) rs140355580
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) rs267606665
NM_001195248.2(APTX):c.689dup (p.Glu232fs) rs587776593
NM_001195248.2(APTX):c.697A>T (p.Lys233Ter) rs1114167423
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln) rs142133683
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622
NM_001195248.2(APTX):c.742T>C (p.Leu248=) rs141195622
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924
NM_001195248.2(APTX):c.770+10G>T rs111392103
NM_001195248.2(APTX):c.771-5A>G rs751250105
NM_001195248.2(APTX):c.776del (p.Val259fs) rs1563945076
NM_001195248.2(APTX):c.788T>G (p.Val263Gly) rs121908132
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr) rs117041645
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103
NM_001195248.2(APTX):c.841del (p.Ser281fs) rs587776594
NM_001195248.2(APTX):c.853G>A (p.Glu285Lys)
NM_001195248.2(APTX):c.854A>G (p.Glu285Gly)
NM_001195248.2(APTX):c.874+14C>G rs751303502
NM_001195248.2(APTX):c.875-1G>A rs1587330671
NM_001195248.2(APTX):c.875-2A>G rs904293109
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_175073.2(APTX):c.-187C>T

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