ClinVar Miner

List of variants in gene SIX1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) rs149265761 0.00003
NM_005982.4(SIX1):c.216C>A (p.Ser72Arg) rs778653697 0.00001
NM_005982.4(SIX1):c.548A>G (p.Glu183Gly) rs1064793268 0.00001
NM_005982.4(SIX1):c.847G>A (p.Gly283Arg) rs1043747885 0.00001
GRCh37/hg19 14q23.1(chr14:61112483-61117448)x1
NM_005982.4(SIX1):c.103T>G (p.Trp35Gly) rs2502644837
NM_005982.4(SIX1):c.209T>G (p.Leu70Arg) rs2140241330
NM_005982.4(SIX1):c.220C>T (p.Gln74Ter) rs2502644465
NM_005982.4(SIX1):c.225C>G (p.Phe75Leu) rs1291757623
NM_005982.4(SIX1):c.253dup (p.Gln85fs)
NM_005982.4(SIX1):c.268G>A (p.Ala90Thr) rs1895006150
NM_005982.4(SIX1):c.269C>A (p.Ala90Glu) rs2502644266
NM_005982.4(SIX1):c.298G>T (p.Gly100Cys)
NM_005982.4(SIX1):c.313_321del (p.Ala105_Gly107del)
NM_005982.4(SIX1):c.324A>C (p.Lys108Asn)
NM_005982.4(SIX1):c.34G>A (p.Glu12Lys) rs1167753630
NM_005982.4(SIX1):c.368A>G (p.Asp123Gly) rs2502643994
NM_005982.4(SIX1):c.373GAG[3] (p.Glu126_Thr127insGlu)
NM_005982.4(SIX1):c.385T>A (p.Tyr129Asn) rs2502643946
NM_005982.4(SIX1):c.407G>C (p.Arg136Thr)
NM_005982.4(SIX1):c.421G>A (p.Glu141Lys) rs761906849
NM_005982.4(SIX1):c.430_435del (p.Ala144_His145del)
NM_005982.4(SIX1):c.559A>G (p.Arg187Gly) rs1594673095
NM_005982.4(SIX1):c.568A>G (p.Thr190Ala) rs1894946047
NM_005982.4(SIX1):c.583T>C (p.Ser195Pro)
NM_005982.4(SIX1):c.638T>C (p.Met213Thr)
NM_005982.4(SIX1):c.639G>C (p.Met213Ile)
NM_005982.4(SIX1):c.697C>A (p.Leu233Met)
NM_005982.4(SIX1):c.713T>G (p.Met238Arg) rs915194188
NM_005982.4(SIX1):c.811_812del (p.Leu271fs) rs762353418
NM_005982.4(SIX1):c.817_819del (p.Gly273del) rs1894939297
NM_005982.4(SIX1):c.838G>A (p.Val280Met) rs2140239343

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.