ClinVar Miner

List of variants in gene IDS reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890 0.00558
NM_000202.8(IDS):c.418+12T>C rs470986 0.00178
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_000202.8(IDS):c.357C>T (p.Ile119=) rs782362742 0.00006
NM_000202.8(IDS):c.1270G>A (p.Val424Ile) rs373820890 0.00003
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858 0.00003
NM_000202.8(IDS):c.309C>T (p.Tyr103=) rs1174495581 0.00003
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.289C>A (p.Pro97Thr) rs1557340273 0.00001
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.1212G>C (p.Val404=) rs2123995105
NM_000202.8(IDS):c.1268C>T (p.Pro423Leu) rs1569560372
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
NM_000202.8(IDS):c.1406C>G (p.Pro469Arg)
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1598A>T (p.His533Leu)
NM_000202.8(IDS):c.164G>T (p.Gly55Val)
NM_000202.8(IDS):c.186_240+98del
NM_000202.8(IDS):c.199C>A (p.Leu67Met)
NM_000202.8(IDS):c.213C>A (p.Ser71Arg)
NM_000202.8(IDS):c.223C>G (p.Gln75Glu)
NM_000202.8(IDS):c.236C>T (p.Ala79Val) rs368513342
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
NM_000202.8(IDS):c.257C>T (p.Pro86Leu) rs1557340280
NM_000202.8(IDS):c.266T>G (p.Val89Gly)
NM_000202.8(IDS):c.269C>G (p.Ser90Cys)
NM_000202.8(IDS):c.273C>G (p.Phe91Leu)
NM_000202.8(IDS):c.279T>A (p.Thr93=)
NM_000202.8(IDS):c.315C>G (p.Phe105Leu)
NM_000202.8(IDS):c.318C>G (p.Asn106Lys)
NM_000202.8(IDS):c.328A>C (p.Arg110=)

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.