ClinVar Miner

List of variants in gene ARX reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656 0.00008
NM_139058.3(ARX):c.629G>C (p.Gly210Ala) rs752323898 0.00005
NM_139058.3(ARX):c.1272G>A (p.Pro424=) rs398124507 0.00002
NM_139058.3(ARX):c.657T>C (p.Gly219=) rs755317735 0.00001
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1321T>G (p.Phe441Val) rs886042304
NM_139058.3(ARX):c.1404G>C (p.Ala468=) rs794727657
NM_139058.3(ARX):c.1515A>C (p.Thr505=) rs398124509
NM_139058.3(ARX):c.506T>A (p.Ile169Asn) rs1569395494
NM_139058.3(ARX):c.540G>T (p.Ala180=) rs794727309

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