ClinVar Miner

List of variants in gene CTSD reported as likely benign for Neuronal ceroid lipofuscinosis

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_001909.5(CTSD):c.1008C>T (p.Pro336=)
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.5(CTSD):c.1023G>A (p.Lys341=) rs111849172
NM_001909.5(CTSD):c.1047G>A (p.Leu349=)
NM_001909.5(CTSD):c.1062C>T (p.Tyr354=) rs764106396
NM_001909.5(CTSD):c.1065G>A (p.Thr355=)
NM_001909.5(CTSD):c.1071+10C>A
NM_001909.5(CTSD):c.1071+7G>A rs374010531
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129
NM_001909.5(CTSD):c.1083C>T (p.Ala361=)
NM_001909.5(CTSD):c.1101G>A (p.Leu367=) rs777289049
NM_001909.5(CTSD):c.1104C>T (p.Ser368=)
NM_001909.5(CTSD):c.1122C>T (p.Asp374=) rs145821780
NM_001909.5(CTSD):c.1128G>A (p.Pro376=) rs929763593
NM_001909.5(CTSD):c.1137C>T (p.Ser379=) rs141981301
NM_001909.5(CTSD):c.1140G>A (p.Gly380=)
NM_001909.5(CTSD):c.1170C>T (p.Ile390=)
NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser) rs147553344
NM_001909.5(CTSD):c.1221C>T (p.Ala407=) rs1439111867
NM_001909.5(CTSD):c.1230C>T (p.Ala410=) rs772742148
NM_001909.5(CTSD):c.153C>T (p.Pro51=) rs560041488
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230
NM_001909.5(CTSD):c.174G>A (p.Ala58=) rs565191387
NM_001909.5(CTSD):c.180A>G (p.Pro60=) rs749805002
NM_001909.5(CTSD):c.183C>T (p.Ala61=)
NM_001909.5(CTSD):c.195G>T (p.Gly65=)
NM_001909.5(CTSD):c.19C>T (p.Leu7=)
NM_001909.5(CTSD):c.204C>T (p.Pro68=)
NM_001909.5(CTSD):c.216G>A (p.Lys72=) rs764982673
NM_001909.5(CTSD):c.237C>T (p.Tyr79=) rs996421254
NM_001909.5(CTSD):c.240C>T (p.Tyr80=) rs147641822
NM_001909.5(CTSD):c.24G>C (p.Pro8=)
NM_001909.5(CTSD):c.261G>A (p.Thr87=) rs372181453
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882
NM_001909.5(CTSD):c.288C>T (p.Phe96=) rs778220078
NM_001909.5(CTSD):c.306C>T (p.Asn102=) rs1258957118
NM_001909.5(CTSD):c.345C>T (p.Ile115=) rs200875086
NM_001909.5(CTSD):c.352+10G>C rs775828680
NM_001909.5(CTSD):c.352+8A>T rs944771031
NM_001909.5(CTSD):c.352+9C>T
NM_001909.5(CTSD):c.353-4G>A
NM_001909.5(CTSD):c.353-8C>T rs760934292
NM_001909.5(CTSD):c.353-9C>T
NM_001909.5(CTSD):c.393C>T (p.Tyr131=) rs776128996
NM_001909.5(CTSD):c.408C>G (p.Thr136=) rs1060504644
NM_001909.5(CTSD):c.410C>T (p.Ser137Leu) rs777645484
NM_001909.5(CTSD):c.444C>T (p.Ser148=)
NM_001909.5(CTSD):c.447G>A (p.Gly149=) rs752032660
NM_001909.5(CTSD):c.472-11C>G
NM_001909.5(CTSD):c.492G>A (p.Ser164=) rs577842448
NM_001909.5(CTSD):c.510C>T (p.Gly170=) rs749196696
NM_001909.5(CTSD):c.534C>G (p.Val178=) rs758852382
NM_001909.5(CTSD):c.537T>C (p.Phe179=)
NM_001909.5(CTSD):c.54C>T (p.Ala18=)
NM_001909.5(CTSD):c.570C>T (p.Phe190=) rs1325097000
NM_001909.5(CTSD):c.606C>G (p.Ala202=)
NM_001909.5(CTSD):c.627C>T (p.Asn209=) rs772453588
NM_001909.5(CTSD):c.630C>T (p.Asn210=) rs375282504
NM_001909.5(CTSD):c.636G>T (p.Leu212=) rs567625495
NM_001909.5(CTSD):c.639C>T (p.Pro213=)
NM_001909.5(CTSD):c.63C>T (p.Leu21=) rs1021613206
NM_001909.5(CTSD):c.651C>T (p.Asn217=)
NM_001909.5(CTSD):c.654G>A (p.Leu218=)
NM_001909.5(CTSD):c.675C>T (p.Asp225=)
NM_001909.5(CTSD):c.68+10C>T rs760082760
NM_001909.5(CTSD):c.693C>T (p.Phe231=)
NM_001909.5(CTSD):c.697C>T (p.Leu233=) rs142330967
NM_001909.5(CTSD):c.6G>A (p.Gln2=) rs1328097097
NM_001909.5(CTSD):c.705-4C>T rs1057521968
NM_001909.5(CTSD):c.726G>A (p.Gly242=)
NM_001909.5(CTSD):c.729T>C (p.Gly243=) rs774691757
NM_001909.5(CTSD):c.753C>T (p.Asp251=)
NM_001909.5(CTSD):c.75G>A (p.Pro25=) rs140563067
NM_001909.5(CTSD):c.771T>C (p.Gly257=)
NM_001909.5(CTSD):c.816C>A (p.Val272=) rs1554962441
NM_001909.5(CTSD):c.828-4G>A rs371034011
NM_001909.5(CTSD):c.843C>T (p.Ser281=)
NM_001909.5(CTSD):c.849G>A (p.Leu283=)
NM_001909.5(CTSD):c.882G>A (p.Val294=) rs778999077
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527
NM_001909.5(CTSD):c.918T>C (p.Asp306=)
NM_001909.5(CTSD):c.933G>A (p.Leu311=) rs1428157464
NM_001909.5(CTSD):c.945C>T (p.Ile315=) rs752172496
NM_001909.5(CTSD):c.957G>A (p.Pro319=) rs369229897
NM_001909.5(CTSD):c.972+10G>A rs531682785
NM_001909.5(CTSD):c.972+7G>A rs371747998
NM_001909.5(CTSD):c.972+9C>T rs746243061
NM_001909.5(CTSD):c.973-10C>T
NM_001909.5(CTSD):c.993G>A (p.Lys331=) rs1181418072

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