List of variants in gene ANKRD11 reported as likely pathogenic by GeneDx

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_013275.6(ANKRD11):c.674C>T (p.Ala225Val)	rs746852311	0.00001
NM_013275.6(ANKRD11):c.3760_3776del (p.Ser1254fs)	rs1597454691
NM_013275.6(ANKRD11):c.5030_5031del (p.Lys1677fs)	rs1057518578
NM_013275.6(ANKRD11):c.5637dup (p.Glu1880fs)	rs1597444731
NM_013275.6(ANKRD11):c.5974A>T (p.Lys1992Ter)	rs763207005
NM_013275.6(ANKRD11):c.6436A>C (p.Lys2146Gln)	rs1283976400
NM_013275.6(ANKRD11):c.6580C>T (p.Gln2194Ter)	rs201589586
NM_013275.6(ANKRD11):c.7354C>T (p.Arg2452Cys)	rs1064795497
NM_013275.6(ANKRD11):c.7480C>A (p.Pro2494Thr)	rs1064794992
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys)	rs1567537413
NM_013275.6(ANKRD11):c.7788_7804del (p.Asp2596fs)	rs1555521779
NM_013275.6(ANKRD11):c.7873C>T (p.Gln2625Ter)	rs2032836923
NM_013275.6(ANKRD11):c.7945G>A (p.Val2649Met)	rs2151660505
NM_013275.6(ANKRD11):c.809C>T (p.Pro270Leu)	rs1451972961

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