ClinVar Miner

List of variants in gene CTH studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001902.5(CTH):c.*735G>A rs584229 0.29930
NM_001902.6(CTH):c.*523A>T rs583316 0.27281
NM_001902.6(CTH):c.1208G>T (p.Ser403Ile) rs1021737 0.23572
NM_001902.6(CTH):c.*592C>T rs6677781 0.22168
NM_001902.6(CTH):c.*544G>A rs45615634 0.03474
NM_001902.6(CTH):c.*389T>C rs76751106 0.02153
NM_001902.6(CTH):c.129G>A (p.Leu43=) rs61735624 0.00859
NM_001902.6(CTH):c.647-15G>C rs140590694 0.00811
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785 0.00693
NM_001902.6(CTH):c.*546G>A rs190637978 0.00402
NM_001902.6(CTH):c.346+7G>A rs186217898 0.00285
NM_001902.6(CTH):c.685T>C (p.Cys229Arg) rs145785987 0.00116
NM_001902.6(CTH):c.*630G>A rs543839341 0.00084
NM_001902.6(CTH):c.*632G>A rs565236096 0.00080
NM_001902.6(CTH):c.864G>A (p.Lys288=) rs368097625 0.00040
NM_001902.6(CTH):c.15C>A (p.Asp5Glu) rs143859234 0.00034
NM_001902.6(CTH):c.*371G>A rs183166406 0.00025
NM_001902.6(CTH):c.*370C>T rs868533214 0.00024
NM_001902.6(CTH):c.495G>T (p.Lys165Asn) rs375562313 0.00013
NM_001902.6(CTH):c.*334T>A rs886046513 0.00011
NM_001902.6(CTH):c.816C>T (p.Asn272=) rs148057648 0.00011
NM_001902.6(CTH):c.*522T>A rs374567270 0.00009
NM_001902.6(CTH):c.*681G>A rs961613194 0.00009
NM_001902.6(CTH):c.1064del (p.Thr355fs) rs746818113 0.00009
NM_001902.6(CTH):c.*545C>T rs886046516 0.00006
NM_001902.6(CTH):c.*631C>T rs559469669 0.00006
NM_001902.6(CTH):c.589-3C>T rs201568449 0.00006
NM_001902.6(CTH):c.724+10A>G rs763424314 0.00005
NM_001902.6(CTH):c.*260T>C rs768499542 0.00004
NM_001902.6(CTH):c.430G>C (p.Glu144Gln) rs773089704 0.00004
NM_001902.6(CTH):c.*513T>A rs900700647 0.00003
NM_001902.6(CTH):c.*693G>T rs953689275 0.00003
NM_001902.6(CTH):c.1052+1G>A rs570239863 0.00003
NM_001902.6(CTH):c.541G>A (p.Asp181Asn) rs748301555 0.00003
NM_001902.6(CTH):c.793C>T (p.Arg265Ter) rs773107808 0.00003
NM_001902.6(CTH):c.995T>C (p.Leu332Pro) rs767542599 0.00002
NM_001902.6(CTH):c.*217G>T rs567991643 0.00001
NM_001902.6(CTH):c.1033G>A (p.Glu345Lys) rs771762248 0.00001
NM_001902.6(CTH):c.465G>A (p.Trp155Ter) rs1032541755 0.00001
NM_001902.6(CTH):c.*336A>G rs1357205916
NM_001902.6(CTH):c.*411G>C rs1684675526
NM_001902.6(CTH):c.*522_*523insTAA rs886046514
NM_001902.6(CTH):c.*527A>T rs886046515
NM_001902.6(CTH):c.*587G>A rs886046517
NM_001902.6(CTH):c.*588C>T rs932421469
NM_001902.6(CTH):c.*98G>A rs886046512
NM_001902.6(CTH):c.-3A>G rs757363405
NM_001902.6(CTH):c.1052+1G>C rs570239863
NM_001902.6(CTH):c.1191+15TG[16] rs58815241
NM_001902.6(CTH):c.1191+15TG[17] rs58815241
NM_001902.6(CTH):c.1191+15TG[18] rs58815241
NM_001902.6(CTH):c.381A>G (p.Glu127=) rs886046511
NM_001902.6(CTH):c.473C>T (p.Thr158Ile)
NM_001902.6(CTH):c.620T>C (p.Met207Thr)
NM_001902.6(CTH):c.710G>T (p.Arg237Leu) rs147044875
NM_001902.6(CTH):c.718C>G (p.Gln240Glu) rs28941786
NM_001902.6(CTH):c.784_785del (p.Leu262fs) rs748374528
NM_001902.6(CTH):c.794G>T (p.Arg265Leu) rs200263768

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