ClinVar Miner

List of variants reported as likely benign for Neuronal ceroid lipofuscinosis 13 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys) rs143313688 0.00259
NM_003793.4(CTSF):c.683C>G (p.Thr228Arg) rs148611356 0.00107
NM_003793.4(CTSF):c.213+7A>T rs761072570 0.00045
NM_003793.4(CTSF):c.1314C>T (p.Tyr438=) rs149687246 0.00027
NM_003793.4(CTSF):c.214-6C>T rs376579629 0.00026
NM_003793.4(CTSF):c.1203C>T (p.Ser401=) rs139027846 0.00016
NM_003793.4(CTSF):c.780G>A (p.Lys260=) rs140002533 0.00012
NM_003793.4(CTSF):c.597G>A (p.Glu199=) rs200932066 0.00011
NM_003793.4(CTSF):c.868-17C>G rs554536950 0.00011
NM_003793.4(CTSF):c.810C>T (p.Leu270=) rs147398226 0.00009
NM_003793.4(CTSF):c.351C>T (p.His117=) rs112809338 0.00005
NM_003793.4(CTSF):c.1026C>T (p.Tyr342=) rs762134997 0.00003
NM_003793.4(CTSF):c.450T>C (p.Ser150=) rs376744562 0.00003
NM_003793.4(CTSF):c.1230+14C>T rs759960583 0.00002
NM_003793.4(CTSF):c.1321+9C>T rs368422217 0.00002
NM_003793.4(CTSF):c.1166-7A>G rs1480417362 0.00001
NM_003793.4(CTSF):c.1218C>T (p.Ala406=) rs758499333 0.00001
NM_003793.4(CTSF):c.213+20G>A rs1046921955 0.00001
NM_003793.4(CTSF):c.246C>A (p.Ala82=) rs756262196 0.00001
NM_003793.4(CTSF):c.722-4G>A rs780325681 0.00001
NM_003793.4(CTSF):c.933C>T (p.Asn311=) rs1424927546 0.00001
NM_003793.4(CTSF):c.1140C>G (p.Ser380=) rs143674429
NM_003793.4(CTSF):c.1231-13_1231-11del rs777763116
NM_003793.4(CTSF):c.1296G>A (p.Ala432=) rs778969360
NM_003793.4(CTSF):c.1322-14G>A rs759434213
NM_003793.4(CTSF):c.1380+13G>A rs1383853489
NM_003793.4(CTSF):c.1380+19del rs748349059
NM_003793.4(CTSF):c.15G>T (p.Leu5=)
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_003793.4(CTSF):c.171G>C (p.Gly57=) rs1475211531
NM_003793.4(CTSF):c.186G>A (p.Leu62=)
NM_003793.4(CTSF):c.200_205dup (p.Gly67_Arg68dup) rs772656687
NM_003793.4(CTSF):c.258G>A (p.Glu86=) rs1485452186
NM_003793.4(CTSF):c.261A>G (p.Pro87=)
NM_003793.4(CTSF):c.342C>G (p.Leu114=) rs1448143058
NM_003793.4(CTSF):c.42C>G (p.Leu14=) rs1565313940
NM_003793.4(CTSF):c.531+15G>C
NM_003793.4(CTSF):c.614G>T (p.Arg205Leu) rs142782021
NM_003793.4(CTSF):c.867+8C>T rs781540749
NM_003793.4(CTSF):c.972G>A (p.Leu324=) rs749794934

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