List of variants in gene ARX reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1671G>A (p.Thr557=)	rs190910161	0.00349
NM_139058.3(ARX):c.802G>T (p.Val268Leu)	rs587783141	0.00093
NM_139058.3(ARX):c.1515A>G (p.Thr505=)	rs398124509	0.00026
NM_139058.3(ARX):c.558G>T (p.Pro186=)	rs748764628	0.00021
NM_139058.3(ARX):c.1488C>T (p.Thr496=)	rs773666007	0.00010
NM_139058.3(ARX):c.1269C>T (p.His423=)	rs794727656	0.00008
NM_139058.3(ARX):c.1388G>A (p.Ser463Asn)	rs763950769	0.00005
NM_139058.3(ARX):c.642C>A (p.Ala214=)	rs997439358	0.00005
NM_139058.3(ARX):c.1389C>T (p.Ser463=)	rs760617042	0.00004
NM_139058.3(ARX):c.591C>T (p.Gly197=)	rs1200326478	0.00002
NM_139058.3(ARX):c.1605G>C (p.Leu535=)	rs1480681695	0.00001
NM_139058.3(ARX):c.592G>A (p.Val198Ile)	rs966816905	0.00001
NM_139058.3(ARX):c.811A>G (p.Thr271Ala)	rs1057522232	0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser)	rs28935479	0.00001
NM_139058.3(ARX):c.873C>G (p.Pro291=)	rs1359275622	0.00001
NM_139058.3(ARX):c.1151G>A (p.Arg384His)	rs1064797362
NM_139058.3(ARX):c.1209G>C (p.Pro403=)	rs1380487514
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del)	rs398124508
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup)	rs398124508
NM_139058.3(ARX):c.1311C>A (p.Ala437=)	rs1307707269
NM_139058.3(ARX):c.134G>T (p.Gly45Val)
NM_139058.3(ARX):c.1371G>C (p.Gly457=)
NM_139058.3(ARX):c.1374G>C (p.Ala458=)
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)	rs797045292
NM_139058.3(ARX):c.1471dup (p.Leu491fs)	rs797045292
NM_139058.3(ARX):c.1479C>G (p.Ser493Arg)	rs1601945709
NM_139058.3(ARX):c.1497G>T (p.Ala499=)	rs770318189
NM_139058.3(ARX):c.1629G>A (p.Ala543=)
NM_139058.3(ARX):c.467G>A (p.Trp156Ter)	rs2048711878
NM_139058.3(ARX):c.625G>A (p.Gly209Ser)	rs587783203
NM_139058.3(ARX):c.742G>C (p.Glu248Gln)	rs1601948443
NM_139058.3(ARX):c.945G>A (p.Ala315=)	rs1310022652

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