ClinVar Miner

List of variants reported as likely benign for cerebellar hypoplasia-tapetoretinal degeneration syndrome

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001376.5(DYNC1H1):c.7640C>T (p.Pro2547Leu) rs1057518888
NM_003383.5(VLDLR):c.*551T>C rs8210
NM_003383.5(VLDLR):c.1187-3C>T rs11789583
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270
NM_003383.5(VLDLR):c.468C>T (p.Pro156=) rs2242105
NM_003383.5(VLDLR):c.944-5T>C rs35782329

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