ClinVar Miner

List of variants in gene CTSA studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP
NM_000308.3(CTSA):c.-43G>T rs116893852
NM_000308.3(CTSA):c.-52G>A rs373024722
NM_000308.3(CTSA):c.1002+7G>A rs2075961
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.1090G>A (p.Val364Met) rs137941635
NM_000308.3(CTSA):c.1113G>A (p.Pro371=) rs74694805
NM_000308.3(CTSA):c.1142+10C>T rs4608591
NM_000308.3(CTSA):c.1143-3C>A rs764115103
NM_000308.3(CTSA):c.1178G>A (p.Arg393Gln) rs370763298
NM_000308.3(CTSA):c.1238A>G (p.Tyr413Cys) rs137854543
NM_000308.3(CTSA):c.13C>T (p.Pro5Ser) rs765245462
NM_000308.3(CTSA):c.1407G>A (p.Thr469=) rs25649
NM_000308.3(CTSA):c.1420G>A (p.Gly474Ser) rs200051553
NM_000308.3(CTSA):c.159C>T (p.Ile53=) rs150140984
NM_000308.3(CTSA):c.169C>G (p.Pro57Ala) rs1483740187
NM_000308.3(CTSA):c.200A>G (p.Gln67Arg) rs137854541
NM_000308.3(CTSA):c.247T>C (p.Trp83Arg) rs28934603
NM_000308.3(CTSA):c.249-7dup rs780400265
NM_000308.3(CTSA):c.273C>G (p.Pro91=) rs742035
NM_000308.3(CTSA):c.284del (p.Pro95fs) rs587779402
NM_000308.3(CTSA):c.323C>T (p.Ser108Leu) rs137854542
NM_000308.3(CTSA):c.373G>A (p.Gly125Ser) rs886056713
NM_000308.3(CTSA):c.412-5T>G rs375266196
NM_000308.3(CTSA):c.448G>A (p.Val150Met) rs137854545
NM_000308.3(CTSA):c.49G>A (p.Ala17Thr) rs1471695726
NM_000308.3(CTSA):c.522C>T (p.Ala174=) rs190565374
NM_000308.3(CTSA):c.571_572del (p.Phe191fs) rs769812697
NM_000308.3(CTSA):c.746+3A>G rs786200859
NM_000308.3(CTSA):c.747-3C>T rs773034222
NM_000308.3(CTSA):c.753G>A (p.Trp251Ter) rs766114836
NM_000308.3(CTSA):c.799T>A (p.Tyr267Asn) rs137854544
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.887_888del (p.Tyr296fs) rs875989777
NM_000308.3(CTSA):c.893C>T (p.Pro298Leu) rs778824488
NM_000308.3(CTSA):c.924-15del rs3215446
NM_000308.3(CTSA):c.934G>A (p.Asp312Asn) rs142892564
NM_000308.4(CTSA):c.*50C>T
NM_000308.4(CTSA):c.*51C>G
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.1123C>T (p.Arg375Ter)
NM_000308.4(CTSA):c.112del (p.Leu38fs)
NM_000308.4(CTSA):c.1164+7G>A
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
NM_000308.4(CTSA):c.1356C>A (p.Ile452=) rs1201030038
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.201G>A (p.Val67=)
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) rs72555383
NM_000308.4(CTSA):c.357+3A>G
NM_000308.4(CTSA):c.414T>C (p.Asp138=)
NM_000308.4(CTSA):c.444+14C>T
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr)
NM_000308.4(CTSA):c.497del (p.Glu166fs)
NM_000308.4(CTSA):c.533G>C (p.Ser178Thr)
NM_000308.4(CTSA):c.54G>T (p.Leu18=) rs181943893
NM_000308.4(CTSA):c.574A>C (p.Met192Leu)
NM_000308.4(CTSA):c.601-2A>G rs778159802
NM_000308.4(CTSA):c.60del (p.Ser21fs)
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.869+1G>C
NM_000308.4(CTSA):c.874G>C (p.Glu292Gln)
NM_000308.4(CTSA):c.934C>T (p.Arg312Trp)
NM_000308.4(CTSA):c.948+13G>T
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_000308.4(CTSA):c.990dup (p.Cys331fs)
NM_000308.4(CTSA):c.991del (p.Cys331fs)
NM_001127695.2(CTSA):c.51_54delinsC (p.Leu19del) rs886039898

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