ClinVar Miner

List of variants in gene SON reported by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138927.4(SON):c.5969G>A (p.Arg1990His) rs750382142 0.00002
NM_138927.4(SON):c.3530C>T (p.Pro1177Leu) rs1271288888 0.00001
NM_138927.4(SON):c.4638A>G (p.Glu1546=) rs758818850 0.00001
NM_138927.4(SON):c.4901C>T (p.Thr1634Ile) rs1038263767 0.00001
NM_138927.4(SON):c.1091T>C (p.Leu364Pro) rs2085736646
NM_138927.4(SON):c.1568A>G (p.Glu523Gly) rs2085757885
NM_138927.4(SON):c.2449G>T (p.Ala817Ser) rs2085793292
NM_138927.4(SON):c.2655G>A (p.Met885Ile)
NM_138927.4(SON):c.2715G>A (p.Met905Ile) rs1468904625
NM_138927.4(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.4(SON):c.2905C>T (p.Pro969Ser)
NM_138927.4(SON):c.3073dup (p.Met1025fs) rs886039778
NM_138927.4(SON):c.3136G>A (p.Glu1046Lys) rs2085820124
NM_138927.4(SON):c.3145A>G (p.Met1049Val)
NM_138927.4(SON):c.3587C>T (p.Pro1196Leu) rs1225874870
NM_138927.4(SON):c.3815A>G (p.Glu1272Gly) rs2085849259
NM_138927.4(SON):c.384del (p.Lys128fs) rs778418096
NM_138927.4(SON):c.3852_3856del (p.Met1284fs) rs1114167303
NM_138927.4(SON):c.4349C>T (p.Pro1450Leu)
NM_138927.4(SON):c.4424A>C (p.Glu1475Ala)
NM_138927.4(SON):c.4548G>A (p.Glu1516=) rs2085879819
NM_138927.4(SON):c.4972C>T (p.Pro1658Ser) rs2085897193
NM_138927.4(SON):c.4996C>G (p.Leu1666Val)
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.5840G>A (p.Arg1947Lys) rs2085932078
NM_138927.4(SON):c.5891_5892delinsTT (p.Ser1964Ile) rs2085934599
NM_138927.4(SON):c.5978G>A (p.Arg1993His) rs1241567565
NM_138927.4(SON):c.6083T>A (p.Phe2028Tyr) rs2085944855
NM_138927.4(SON):c.6233del (p.Pro2078fs) rs886039779
NM_138927.4(SON):c.637G>C (p.Glu213Gln) rs2085716994
NM_138927.4(SON):c.6657+316G>A rs1013825474

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.