List of variants in gene ARX reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser)	rs1468724042	0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser)	rs28935479	0.00001
NM_139058.3(ARX):c.1039T>G (p.Phe347Val)	rs1556054888
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)	rs104894746
NM_139058.3(ARX):c.1112G>A (p.Arg371Gln)	rs2147322042
NM_139058.3(ARX):c.1121T>A (p.Val374Asp)	rs587783183
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)	rs2048683301
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys)	rs587783184
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser)	rs1556049714
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys)	rs1556049714
NM_139058.3(ARX):c.1187dup (p.Gly397fs)	rs1328291159
NM_139058.3(ARX):c.1206del (p.Pro403fs)	rs2147320576
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer)	rs1569394026
NM_139058.3(ARX):c.1384_1406del (p.Leu462fs)
NM_139058.3(ARX):c.1471dup (p.Leu491fs)	rs797045292
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
NM_139058.3(ARX):c.1552del (p.Ala518fs)
NM_139058.3(ARX):c.1579_1582del (p.Arg527fs)	rs1057518794
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs)	rs1601945599
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)	rs2048669411
NM_139058.3(ARX):c.1612A>G (p.Lys538Glu)	rs1064794843
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)	rs2147318633
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
NM_139058.3(ARX):c.30C>A (p.Cys10Ter)	rs794726959
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)	rs398122854
NM_139058.3(ARX):c.821dup (p.Ala275fs)
NM_139058.3(ARX):c.84C>A (p.Cys28Ter)	rs932485786
NM_139058.3(ARX):c.989G>A (p.Arg330His)	rs886039308
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)	rs2147323593
NM_139058.3(ARX):c.994C>T (p.Arg332Cys)	rs2147323593

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