ClinVar Miner

List of variants in gene CTSA reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_000308.3(CTSA):c.-52G>A rs373024722
NM_000308.3(CTSA):c.1063G>C (p.Ala355Pro) rs374059459
NM_000308.3(CTSA):c.108G>C (p.Leu36=) rs181943893
NM_000308.3(CTSA):c.1113G>A (p.Pro371=) rs74694805
NM_000308.3(CTSA):c.1143-3C>A rs764115103
NM_000308.3(CTSA):c.1178G>A (p.Arg393Gln) rs370763298
NM_000308.3(CTSA):c.13C>T (p.Pro5Ser) rs765245462
NM_000308.3(CTSA):c.1420G>A (p.Gly474Ser) rs200051553
NM_000308.3(CTSA):c.169C>G (p.Pro57Ala) rs1483740187
NM_000308.3(CTSA):c.249-7dup rs780400265
NM_000308.3(CTSA):c.373G>A (p.Gly125Ser) rs886056713
NM_000308.3(CTSA):c.412-5T>G rs375266196
NM_000308.3(CTSA):c.49G>A (p.Ala17Thr) rs1471695726
NM_000308.3(CTSA):c.747-3C>T rs773034222
NM_000308.3(CTSA):c.753G>A (p.Trp251Ter) rs766114836
NM_000308.3(CTSA):c.822C>A (p.Cys274Ter) rs767712946
NM_000308.3(CTSA):c.823G>A (p.Val275Met) rs745752655
NM_000308.3(CTSA):c.847C>T (p.Arg283Cys) rs763381306
NM_000308.3(CTSA):c.893C>T (p.Pro298Leu) rs778824488
NM_000308.4(CTSA):c.*50C>T
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu)
NM_000308.4(CTSA):c.1039C>T (p.Arg347Trp)
NM_000308.4(CTSA):c.1043A>C (p.Lys348Thr)
NM_000308.4(CTSA):c.1074A>T (p.Gln358His)
NM_000308.4(CTSA):c.1088+3G>A
NM_000308.4(CTSA):c.1164+7G>A
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
NM_000308.4(CTSA):c.1361G>T (p.Gly454Val)
NM_000308.4(CTSA):c.1409T>C (p.Met470Thr)
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala)
NM_000308.4(CTSA):c.357+3A>G
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr)
NM_000308.4(CTSA):c.533G>C (p.Ser178Thr)
NM_000308.4(CTSA):c.574A>C (p.Met192Leu)
NM_000308.4(CTSA):c.67G>A (p.Ala23Thr)
NM_000308.4(CTSA):c.692+13G>A
NM_000308.4(CTSA):c.724T>A (p.Ser242Thr)
NM_000308.4(CTSA):c.736T>C (p.Cys246Arg)
NM_000308.4(CTSA):c.830T>C (p.Leu277Pro)
NM_000308.4(CTSA):c.874G>C (p.Glu292Gln)
NM_000308.4(CTSA):c.934C>T (p.Arg312Trp)
NM_000308.4(CTSA):c.948+5G>A
NM_000308.4(CTSA):c.977G>A (p.Arg326His)
NM_000308.4(CTSA):c.980T>C (p.Met327Thr)
NM_001127695.2(CTSA):c.51_54delinsC (p.Leu19del) rs886039898

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