List of variants in gene MARK2 reported as pathogenic for Autism spectrum disorder

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001039469.3(MARK2):c.1101+1G>A	rs1940823816
NM_001039469.3(MARK2):c.1120del (p.Thr374fs)	rs1554985733
NM_001039469.3(MARK2):c.1181dup (p.Val395fs)	rs2539326870
NM_001039469.3(MARK2):c.1750C>T (p.Arg584Ter)	rs1941197590
NM_001039469.3(MARK2):c.1769del (p.Gly590fs)	rs2539335503
NM_001039469.3(MARK2):c.1888dup (p.Ala630fs)	rs2539335876
NM_001039469.3(MARK2):c.2168_2169del (p.Cys723fs)	rs2539350226
NM_001039469.3(MARK2):c.2239C>T (p.Gln747Ter)	rs2539350467
NM_001039469.3(MARK2):c.288dup (p.Leu97fs)	rs2539306378
NM_001039469.3(MARK2):c.337+1G>T	rs2539313698
NM_001039469.3(MARK2):c.757C>T (p.Gln253Ter)	rs2539319606
NM_001039469.3(MARK2):c.812del (p.Phe271fs)	rs2539321295
NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter)	rs1468332923
NM_001039469.3(MARK2):c.989-1G>A	rs2539322573

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