ClinVar Miner

List of variants in gene APTX studied for cerebellar disorder

Included ClinVar conditions (274):
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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
NM_001195248.2(APTX):c.*806G>A rs113556331 0.00570
NM_001195248.2(APTX):c.134-12A>C rs113391831 0.00057
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001195248.2(APTX):c.*834C>G rs770908697 0.00032
NM_001195248.2(APTX):c.*858C>G rs772290850 0.00031
NM_001195248.2(APTX):c.*605G>A rs545625482 0.00006
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr) rs117041645 0.00006
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln) rs142133683 0.00004
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp) rs886063858 0.00003
NM_001195248.2(APTX):c.*851_*852del rs377365362
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.742T>C (p.Leu248=) rs141195622
NM_001195248.2(APTX):c.771-12dup rs34600530

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