ClinVar Miner

List of variants in gene VLDLR reported as uncertain significance for cerebellar hypoplasia-tapetoretinal degeneration syndrome

Included ClinVar conditions (19):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.449-12C>T rs73640152 0.00648
NM_003383.5(VLDLR):c.-171G>C rs35763266 0.00593
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_003383.5(VLDLR):c.-111C>T rs374367278 0.00109
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944 0.00053
NM_003383.5(VLDLR):c.1791G>A (p.Ala597=) rs115773578 0.00053
NM_003383.5(VLDLR):c.-122T>C rs886063802 0.00044
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403 0.00036
NM_003383.5(VLDLR):c.*16T>C rs150475109 0.00029
NM_003383.5(VLDLR):c.*83C>T rs755339168 0.00026
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735 0.00026
NM_003383.5(VLDLR):c.*48C>T rs368949453 0.00024
NM_003383.5(VLDLR):c.582C>T (p.Gly194=) rs148012674 0.00018
NM_003383.5(VLDLR):c.1838G>A (p.Arg613His) rs35948251 0.00017
NM_003383.5(VLDLR):c.*460G>A rs550310153 0.00010
NM_003383.5(VLDLR):c.*63C>T rs17848373 0.00010
NM_003383.5(VLDLR):c.-392C>T rs867729388 0.00010
NM_003383.5(VLDLR):c.540C>T (p.Ser180=) rs367872112 0.00009
NM_003383.5(VLDLR):c.1966C>T (p.Arg656Cys) rs754226022 0.00005
NM_003383.5(VLDLR):c.1755A>C (p.Gly585=) rs372963310 0.00004
NM_003383.5(VLDLR):c.2546T>C (p.Ile849Thr) rs116082439 0.00004
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_003383.5(VLDLR):c.-121C>T rs886063803 0.00002
NM_003383.5(VLDLR):c.1066+14T>C rs762128149 0.00001
NM_003383.5(VLDLR):c.*490T>G rs886063812
NM_003383.5(VLDLR):c.*517G>C rs886063813
NM_003383.5(VLDLR):c.*595_*598dup rs886063814
NM_003383.5(VLDLR):c.-113C>G rs34433332
NM_003383.5(VLDLR):c.-167dup rs886063801
NM_003383.5(VLDLR):c.-19_-18insGGCACCGGC rs1554617688
NM_003383.5(VLDLR):c.-25_-24insATCCAG rs886063807
NM_003383.5(VLDLR):c.-335C>T rs557105742
NM_003383.5(VLDLR):c.-42GGC[4] rs71329437
NM_003383.5(VLDLR):c.-42GGC[5] rs71329437
NM_003383.5(VLDLR):c.-42GGC[7] rs71329437
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_003383.5(VLDLR):c.-56_-54del rs886063804
NM_003383.5(VLDLR):c.1703+10C>G rs372047946
NM_003383.5(VLDLR):c.2103A>C (p.Ser701=) rs886063811
NM_003383.5(VLDLR):c.505A>G (p.Arg169Gly) rs777739092
NM_003383.5(VLDLR):c.862G>T (p.Gly288Cys) rs886063808
NM_003383.5(VLDLR):c.863G>C (p.Gly288Ala) rs886063809
NM_003383.5(VLDLR):c.943+10del rs761373572

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