List of variants in gene ANKRD1 reported as uncertain significance 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: 46

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HGVS	dbSNP	gnomAD frequency
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu)	rs201398260	0.00043
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr)	rs183061595	0.00039
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser)	rs148189486	0.00037
NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val)	rs150266349	0.00019
NM_014391.3(ANKRD1):c.234A>T (p.Arg78Ser)	rs141376679	0.00016
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His)	rs377074932	0.00007
NM_014391.3(ANKRD1):c.545G>A (p.Arg182His)	rs530739375	0.00004
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)	rs144770680	0.00004
NM_014391.3(ANKRD1):c.881A>G (p.His294Arg)	rs754657888	0.00004
NM_014391.3(ANKRD1):c.131A>G (p.Asp44Gly)	rs749040843	0.00003
NM_014391.3(ANKRD1):c.328C>T (p.Pro110Ser)	rs200061926	0.00003
NM_014391.3(ANKRD1):c.472C>T (p.His158Tyr)	rs773773073	0.00002
NM_014391.3(ANKRD1):c.739_745del (p.Ala247fs)	rs778060304	0.00002
NM_014391.3(ANKRD1):c.750+5G>A	rs761485473	0.00002
NM_014391.3(ANKRD1):c.860C>T (p.Thr287Met)	rs794728975	0.00002
NM_014391.3(ANKRD1):c.132T>A (p.Asp44Glu)	rs375587589	0.00001
NM_014391.3(ANKRD1):c.175C>G (p.Gln59Glu)	rs1057521825	0.00001
NM_014391.3(ANKRD1):c.181A>G (p.Lys61Glu)	rs775086759	0.00001
NM_014391.3(ANKRD1):c.193C>A (p.Gln65Lys)	rs139169078	0.00001
NM_014391.3(ANKRD1):c.194A>C (p.Gln65Pro)	rs759803899	0.00001
NM_014391.3(ANKRD1):c.3G>C (p.Met1Ile)	rs188706671	0.00001
NM_014391.3(ANKRD1):c.534G>T (p.Gln178His)	rs1415990803	0.00001
NM_014391.3(ANKRD1):c.553C>G (p.Leu185Val)	rs794728974	0.00001
NM_014391.3(ANKRD1):c.57G>C (p.Glu19Asp)	rs1431425358	0.00001
NM_014391.3(ANKRD1):c.625G>C (p.Gly209Arg)	rs754771221	0.00001
NM_014391.3(ANKRD1):c.652-2A>T	rs1363630523	0.00001
NM_014391.3(ANKRD1):c.750+2T>C	rs112511807	0.00001
NM_014391.3(ANKRD1):c.118G>A (p.Glu40Lys)	rs1316020181
NM_014391.3(ANKRD1):c.125A>G (p.Gln42Arg)	rs1408164414
NM_014391.3(ANKRD1):c.183A>T (p.Lys61Asn)	rs2120273603
NM_014391.3(ANKRD1):c.191AAC[1] (p.Gln65del)	rs762660319
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs)	rs776659587
NM_014391.3(ANKRD1):c.28G>A (p.Val10Ile)
NM_014391.3(ANKRD1):c.298A>C (p.Arg100=)
NM_014391.3(ANKRD1):c.346-11T>A	rs1371295947
NM_014391.3(ANKRD1):c.485del (p.Leu162fs)	rs794728976
NM_014391.3(ANKRD1):c.49A>G (p.Asn17Asp)	rs1057522674
NM_014391.3(ANKRD1):c.596T>G (p.Leu199Arg)	rs1847372810
NM_014391.3(ANKRD1):c.652-14_652-13delinsC	rs2120265546
NM_014391.3(ANKRD1):c.697G>C (p.Glu233Gln)	rs776158687
NM_014391.3(ANKRD1):c.795dup (p.Lys266Ter)	rs794728977
NM_014391.3(ANKRD1):c.79G>T (p.Asp27Tyr)	rs1847422222
NM_014391.3(ANKRD1):c.849+1G>C	rs1187266733
NM_014391.3(ANKRD1):c.929C>T (p.Ser310Phe)	rs1847330912
NM_014391.3(ANKRD1):c.92G>A (p.Gly31Glu)	rs763320656
NM_014391.3(ANKRD1):c.944G>A (p.Arg315His)	rs746392266

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