ClinVar Miner

List of variants in gene MFSD8 reported as likely pathogenic for neuronal ceroid lipofuscinosis

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_001371596.2(MFSD8):c.864-1G>A rs571950296 0.00002
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235 0.00001
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) rs1275962600 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001371596.2(MFSD8):c.77T>G (p.Leu26Ter) rs760049336 0.00001
NM_001371596.2(MFSD8):c.863+4A>G rs752035164 0.00001
NM_001371596.2(MFSD8):c.923A>G (p.Tyr308Cys) rs757345902 0.00001
NC_000004.11:g.(128859994_128861007)_(128865148_128870958)del
NC_000004.11:g.(?_128851828)_(128851982_?)del
NC_000004.11:g.(?_128864934)_(128868356_?)del
NC_000004.11:g.(?_128870949)_(128871012_?)dup
NC_000004.12:g.(?_127957491)_(127957602_?)dup
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_001371596.2(MFSD8):c.1102+1G>A
NM_001371596.2(MFSD8):c.1102+2T>C
NM_001371596.2(MFSD8):c.1102G>A (p.Asp368Asn)
NM_001371596.2(MFSD8):c.1103-2A>T
NM_001371596.2(MFSD8):c.1103-2del rs1736369601
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs) rs1578794927
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter) rs778875017
NM_001371596.2(MFSD8):c.1348C>T (p.Gln450Ter)
NM_001371596.2(MFSD8):c.1350+2T>C rs1736332381
NM_001371596.2(MFSD8):c.1367G>A (p.Trp456Ter)
NM_001371596.2(MFSD8):c.1390G>A (p.Ala464Thr)
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp) rs1043984708
NM_001371596.2(MFSD8):c.1436G>A (p.Trp479Ter)
NM_001371596.2(MFSD8):c.154+1G>A
NM_001371596.2(MFSD8):c.193C>T (p.Gln65Ter)
NM_001371596.2(MFSD8):c.198+1G>A
NM_001371596.2(MFSD8):c.198+1G>T
NM_001371596.2(MFSD8):c.198+2T>C rs2148943607
NM_001371596.2(MFSD8):c.198+2T>G
NM_001371596.2(MFSD8):c.199-1G>A
NM_001371596.2(MFSD8):c.199-1G>C rs1449062348
NM_001371596.2(MFSD8):c.199-2A>G rs1578912759
NM_001371596.2(MFSD8):c.1A>G (p.Met1Val)
NM_001371596.2(MFSD8):c.249_250dup (p.Ser84fs)
NM_001371596.2(MFSD8):c.25G>T (p.Glu9Ter)
NM_001371596.2(MFSD8):c.28C>T (p.Gln10Ter)
NM_001371596.2(MFSD8):c.2T>A (p.Met1Lys)
NM_001371596.2(MFSD8):c.2T>C (p.Met1Thr)
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001371596.2(MFSD8):c.416G>T (p.Arg139Leu)
NM_001371596.2(MFSD8):c.439+2T>A
NM_001371596.2(MFSD8):c.440-2A>T rs751696703
NM_001371596.2(MFSD8):c.472G>A (p.Gly158Ser)
NM_001371596.2(MFSD8):c.525T>A (p.Cys175Ter) rs556661896
NM_001371596.2(MFSD8):c.553+1G>A rs1553950197
NM_001371596.2(MFSD8):c.554-1G>C rs773886985
NM_001371596.2(MFSD8):c.627_643del (p.Met209fs) rs1578889355
NM_001371596.2(MFSD8):c.63-652_74del rs1743097125
NM_001371596.2(MFSD8):c.63-6_83del
NM_001371596.2(MFSD8):c.68G>A (p.Trp23Ter)
NM_001371596.2(MFSD8):c.698+1G>A
NM_001371596.2(MFSD8):c.699-1G>C rs1739594685
NM_001371596.2(MFSD8):c.699-2A>G
NM_001371596.2(MFSD8):c.754+1G>A rs868732642
NM_001371596.2(MFSD8):c.755-1G>A
NM_001371596.2(MFSD8):c.755-2A>C
NM_001371596.2(MFSD8):c.847T>G (p.Phe283Val)
NM_001371596.2(MFSD8):c.863+1del
NM_001371596.2(MFSD8):c.864-2A>G
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001371596.2(MFSD8):c.910C>T (p.Gln304Ter)
NM_001371596.2(MFSD8):c.929G>A (p.Gly310Asp) rs118203975
NM_001371596.2(MFSD8):c.998+1G>C
NM_001371596.2(MFSD8):c.998+2T>G
NM_001371596.2(MFSD8):c.999-1G>A rs2148841537

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