List of variants in gene ANKRD11 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)	rs900492387
NM_013275.6(ANKRD11):c.1401del (p.Arg468fs)	rs2034558502
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	rs886041125
NM_013275.6(ANKRD11):c.1976dup (p.Tyr659Ter)	rs2034511189
NM_013275.6(ANKRD11):c.1977C>A (p.Tyr659Ter)	rs749201074
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)	rs886041791
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)	rs1597461100
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.2413G>T (p.Glu805Ter)	rs747437062
NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter)	rs2034471125
NM_013275.6(ANKRD11):c.2635G>T (p.Glu879Ter)
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)	rs752918694
NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs)	rs1064794330
NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs)	rs772267579
NM_013275.6(ANKRD11):c.3591_3594del (p.Lys1198fs)	rs2151754276
NM_013275.6(ANKRD11):c.3768_3769del (p.His1256fs)	rs2034368063
NM_013275.6(ANKRD11):c.4349_4352del (p.Ser1450fs)
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs)	rs886041521
NM_013275.6(ANKRD11):c.4634dup (p.Val1546fs)	rs2034281644
NM_013275.6(ANKRD11):c.5375_5376del (p.Ser1792fs)	rs2034201742
NM_013275.6(ANKRD11):c.5675del (p.Pro1892fs)
NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs)	rs1597443966
NM_013275.6(ANKRD11):c.641dup (p.Tyr214Ter)	rs2151783840
NM_013275.6(ANKRD11):c.6589dup (p.Thr2197fs)
NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs)	rs1555525296
NM_013275.6(ANKRD11):c.7636dup (p.Ala2546fs)	rs2151701696
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter)	rs761636251

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