ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 7 by OMIM

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Total variants: 11
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HGVS dbSNP
NM_001371596.2:c.468_469delinsCC
NM_152778.3(MFSD8):c.1102G>C (p.Asp368His) rs727502800
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.1286G>A (p.Gly429Asp) rs118203976
NM_152778.3(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.3(MFSD8):c.362A>G (p.Tyr121Cys) rs118203978
NM_152778.3(MFSD8):c.863+3_863+4insT rs727502801
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_152778.3(MFSD8):c.894T>G (p.Tyr298Ter) rs118203977
NM_152778.3(MFSD8):c.929G>A (p.Gly310Asp) rs118203975

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