List of variants in gene ANK2 reported as 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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile)	rs35530544	0.01031
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)	rs121912706	0.00094
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)	rs72544141	0.00085
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)	rs121912705	0.00077
NM_001148.6(ANK2):c.11761C>T (p.Gln3921Ter)	rs768327292	0.00001
NM_001148.6(ANK2):c.10367del (p.Gly3456fs)	rs750143580
NM_001148.6(ANK2):c.1036G>T (p.Glu346Ter)
NM_001148.6(ANK2):c.10924C>T (p.Arg3642Ter)	rs757033443
NM_001148.6(ANK2):c.11437C>T (p.Gln3813Ter)
NM_001148.6(ANK2):c.11760_11761delinsTT (p.Gln3921Ter)
NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe)	rs786205724
NM_001148.6(ANK2):c.2282_2289del (p.Gly761fs)
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter)	rs1588354762
NM_001148.6(ANK2):c.2954_2955del (p.Arg985fs)
NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter)	rs2092061253
NM_001148.6(ANK2):c.3262C>T (p.Arg1088Ter)
NM_001148.6(ANK2):c.3281dup (p.Val1095fs)
NM_001148.6(ANK2):c.9184G>T (p.Glu3062Ter)

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