List of variants in gene ARX reported as likely benign by Ambry Genetics

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1515A>G (p.Thr505=)	rs398124509	0.00026
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly)	rs778734352	0.00023
NM_139058.3(ARX):c.1599C>G (p.Ala533=)	rs1057523196	0.00012
NM_139058.3(ARX):c.1269C>T (p.His423=)	rs794727656	0.00008
NM_139058.3(ARX):c.1170C>T (p.Gly390=)	rs761632870	0.00006
NM_139058.3(ARX):c.237G>A (p.Leu79=)	rs1212876092	0.00006
NM_139058.3(ARX):c.642C>A (p.Ala214=)	rs997439358	0.00005
NM_139058.3(ARX):c.921C>A (p.Gly307=)	rs398124519	0.00004
NM_139058.3(ARX):c.776T>C (p.Leu259Pro)	rs774291500	0.00003
NM_139058.3(ARX):c.1471C>A (p.Leu491Met)	rs752807804	0.00002
NM_139058.3(ARX):c.137C>A (p.Ala46Asp)	rs753049882	0.00001
NM_139058.3(ARX):c.807C>T (p.Ala269=)	rs587783205	0.00001
NM_139058.3(ARX):c.840T>C (p.Ala280=)	rs936582415	0.00001
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del)	rs398124508
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)	rs398124508
NM_139058.3(ARX):c.1404G>C (p.Ala468=)	rs794727657
NM_139058.3(ARX):c.14A>T (p.Tyr5Phe)
NM_139058.3(ARX):c.620T>C (p.Val207Ala)

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