List of variants in gene ANKRD11 reported as pathogenic by Autoinflammatory diseases unit, CHU de Montpellier

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_013275.6(ANKRD11):c.1385_1388del (p.Thr462fs)	rs2034559427
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	rs886041125
NM_013275.6(ANKRD11):c.2299A>T (p.Lys767Ter)	rs2034488113
NM_013275.6(ANKRD11):c.2350G>T (p.Glu784Ter)	rs2034483683
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)	rs797045027
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)	rs886039902
NM_013275.6(ANKRD11):c.249del (p.Arg84fs)	rs2035039338
NM_013275.6(ANKRD11):c.2751dup (p.Glu918Ter)	rs2034453469
NM_013275.6(ANKRD11):c.3066del (p.Thr1023fs)	rs2034426153
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs)	rs1064794330
NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs)	rs1555528354
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)	rs1364690005
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs)	rs1597451815
NM_013275.6(ANKRD11):c.4786G>T (p.Glu1596Ter)	rs2034270521
NM_013275.6(ANKRD11):c.7311_7314dup (p.Phe2439fs)	rs2033941632
NM_013275.6(ANKRD11):c.894_916del (p.Glu298fs)	rs2034595868

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