ClinVar Miner

List of variants reported as likely pathogenic for Neuronal ceroid lipofuscinosis 7 by Invitae

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001371596.2(MFSD8):c.864-1G>A rs571950296 0.00002
NC_000004.11:g.(?_128851828)_(128851982_?)del
NC_000004.11:g.(?_128870949)_(128871012_?)dup
NC_000004.12:g.(?_127957491)_(127957602_?)dup
NM_001371596.2(MFSD8):c.1102+1G>A
NM_001371596.2(MFSD8):c.1102+2T>C
NM_001371596.2(MFSD8):c.1103-2A>T
NM_001371596.2(MFSD8):c.1103-2del rs1736369601
NM_001371596.2(MFSD8):c.1390G>A (p.Ala464Thr)
NM_001371596.2(MFSD8):c.154+1G>A
NM_001371596.2(MFSD8):c.198+1G>A
NM_001371596.2(MFSD8):c.199-1G>A
NM_001371596.2(MFSD8):c.199-1G>C rs1449062348
NM_001371596.2(MFSD8):c.1A>G (p.Met1Val)
NM_001371596.2(MFSD8):c.2T>A (p.Met1Lys)
NM_001371596.2(MFSD8):c.2T>C (p.Met1Thr)
NM_001371596.2(MFSD8):c.439+2T>A
NM_001371596.2(MFSD8):c.440-2A>T rs751696703
NM_001371596.2(MFSD8):c.553+1G>A rs1553950197
NM_001371596.2(MFSD8):c.554-1G>C rs773886985
NM_001371596.2(MFSD8):c.63-652_74del rs1743097125
NM_001371596.2(MFSD8):c.699-1G>C rs1739594685
NM_001371596.2(MFSD8):c.699-2A>G
NM_001371596.2(MFSD8):c.755-1G>A
NM_001371596.2(MFSD8):c.755-2A>C
NM_001371596.2(MFSD8):c.863+1del
NM_001371596.2(MFSD8):c.864-2A>G
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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