ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP
NC_000004.12:g.(?_127920610)_(127957612_?)del
NC_000004.12:g.(?_127930663)_(127933113_?)del
NC_000004.12:g.(?_127930663)_(127965153_?)del
NC_000004.12:g.(?_127932965)_(127933113_?)del
NC_000004.12:g.(?_127965052)_(127965153_?)del
NC_000004.12:g.(?_127965062)_(127965143_?)del
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)
NM_001371596.2(MFSD8):c.27_33delinsCC (p.Glu9fs)
NM_001371596.2(MFSD8):c.754+1G>A
NM_001371596.2(MFSD8):c.831dup (p.Val278fs) rs775699005
NM_001371596.2(MFSD8):c.863+1G>A rs200319160
NM_001371596.2(MFSD8):c.863+1G>T
NM_152778.3(MFSD8):c.1036del (p.Val346fs) rs1439582451
NM_152778.3(MFSD8):c.1086del (p.Ile364fs) rs1460276679
NM_152778.3(MFSD8):c.1141G>T (p.Glu381Ter) rs724159970
NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_152778.3(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.233G>A (p.Trp78Ter) rs1578912362
NM_152778.3(MFSD8):c.64G>T (p.Glu22Ter) rs1560776422
NM_152778.3(MFSD8):c.754+2T>A rs587778809
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_152778.3(MFSD8):c.894T>G (p.Tyr298Ter) rs118203977

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