ClinVar Miner

List of variants in gene combination CTSD, PRADX reported as likely benign for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835 0.01221
NM_001909.5(CTSD):c.75G>A (p.Pro25=) rs140563067 0.00040
NM_001909.5(CTSD):c.154G>A (p.Val52Ile) rs143517230 0.00026
NM_001909.5(CTSD):c.228+18G>T rs376354665 0.00021
NM_001909.5(CTSD):c.90G>A (p.Thr30=) rs368529527 0.00012
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368 0.00011
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505 0.00006
NM_001909.5(CTSD):c.153C>T (p.Pro51=) rs560041488 0.00006
NM_001909.5(CTSD):c.174G>A (p.Ala58=) rs565191387 0.00006
NM_001909.5(CTSD):c.216G>A (p.Lys72=) rs764982673 0.00005
NM_001909.5(CTSD):c.69-12C>T rs764025297 0.00002
NM_001909.5(CTSD):c.69-16G>A rs377703110 0.00002
NM_001909.5(CTSD):c.150C>T (p.Gly50=) rs151292135 0.00001
NM_001909.5(CTSD):c.183C>T (p.Ala61=) rs370571459 0.00001
NM_001909.5(CTSD):c.204C>T (p.Pro68=) rs563052262 0.00001
NM_001909.5(CTSD):c.228+14C>A rs1845872918 0.00001
NM_001909.5(CTSD):c.69-11G>A rs199970909 0.00001
NM_001909.5(CTSD):c.105C>T (p.Thr35=) rs2133666357
NM_001909.5(CTSD):c.111G>C (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.114G>A (p.Glu38=)
NM_001909.5(CTSD):c.117T>C (p.Val39=)
NM_001909.5(CTSD):c.120G>A (p.Gly40=)
NM_001909.5(CTSD):c.129G>C (p.Val43=)
NM_001909.5(CTSD):c.141T>C (p.Ile47=)
NM_001909.5(CTSD):c.162G>A (p.Lys54=)
NM_001909.5(CTSD):c.165C>T (p.Tyr55=)
NM_001909.5(CTSD):c.168C>G (p.Ser56=)
NM_001909.5(CTSD):c.168C>T (p.Ser56=)
NM_001909.5(CTSD):c.177G>A (p.Val59=)
NM_001909.5(CTSD):c.180A>G (p.Pro60=) rs749805002
NM_001909.5(CTSD):c.189C>G (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.192G>A (p.Glu64=)
NM_001909.5(CTSD):c.195G>A (p.Gly65=)
NM_001909.5(CTSD):c.195G>T (p.Gly65=) rs2133666196
NM_001909.5(CTSD):c.204C>G (p.Pro68=)
NM_001909.5(CTSD):c.207G>A (p.Glu69=)
NM_001909.5(CTSD):c.228+17A>G
NM_001909.5(CTSD):c.228+19C>A
NM_001909.5(CTSD):c.228+20C>A
NM_001909.5(CTSD):c.228+7A>T
NM_001909.5(CTSD):c.228+8T>C
NM_001909.5(CTSD):c.69-11G>C rs199970909
NM_001909.5(CTSD):c.69-14C>T
NM_001909.5(CTSD):c.69-15A>G
NM_001909.5(CTSD):c.69-16G>C rs377703110
NM_001909.5(CTSD):c.69-17C>T rs371858126
NM_001909.5(CTSD):c.69-18C>T
NM_001909.5(CTSD):c.69-19C>T
NM_001909.5(CTSD):c.84G>A (p.Lys28=)

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