ClinVar Miner

List of variants in gene ARX reported by OMIM

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
ARX, ARG2085HIS
NG_008281.1:g.(?_4983)_(8028_10643)del
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) rs104894741
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1105G>T (p.Glu369Ter) rs104894746
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) rs104894740
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1372del (p.Ala458fs) rs587783187
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.232G>T (p.Glu78Ter) rs267606666
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.790del (p.Arg264fs) rs886043552
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139058.3(ARX):c.98T>C (p.Leu33Pro) rs28936077
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612
NM_139058.3(ARX):c.998C>A (p.Thr333Asn) rs104894745

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