ClinVar Miner

List of variants reported as uncertain significance for Vissers-Bodmer syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_016284.5(CNOT1):c.2129A>C (p.Gln710Pro) rs770253714 0.00001
NM_016284.5(CNOT1):c.-175+5G>A rs1015293911
NM_016284.5(CNOT1):c.1042C>A (p.Leu348Met)
NM_016284.5(CNOT1):c.1862A>G (p.Lys621Arg)
NM_016284.5(CNOT1):c.2035A>C (p.Asn679His)
NM_016284.5(CNOT1):c.2455T>C (p.Phe819Leu)
NM_016284.5(CNOT1):c.334T>C (p.Phe112Leu)
NM_016284.5(CNOT1):c.3362C>T (p.Thr1121Met)
NM_016284.5(CNOT1):c.3398A>G (p.Tyr1133Cys) rs2151928424
NM_016284.5(CNOT1):c.3618A>C (p.Lys1206Asn)
NM_016284.5(CNOT1):c.3710C>T (p.Pro1237Leu) rs2040285777
NM_016284.5(CNOT1):c.3722A>G (p.Lys1241Arg)
NM_016284.5(CNOT1):c.4114C>T (p.Pro1372Ser)
NM_016284.5(CNOT1):c.4141C>G (p.Pro1381Ala) rs779708330
NM_016284.5(CNOT1):c.4205dup (p.Glu1403fs)
NM_016284.5(CNOT1):c.4312C>T (p.Arg1438Ter)
NM_016284.5(CNOT1):c.4385T>C (p.Leu1462Pro)
NM_016284.5(CNOT1):c.4432C>T (p.Arg1478Cys) rs1567396193
NM_016284.5(CNOT1):c.4433G>A (p.Arg1478His)
NM_016284.5(CNOT1):c.4882C>T (p.Pro1628Ser)
NM_016284.5(CNOT1):c.5316T>G (p.Asp1772Glu) rs2151911582
NM_016284.5(CNOT1):c.581G>T (p.Gly194Val)
NM_016284.5(CNOT1):c.608T>C (p.Ile203Thr) rs2151984285
NM_016284.5(CNOT1):c.6603+3T>A
NM_016284.5(CNOT1):c.668_669inv (p.Leu223Arg)
NM_016284.5(CNOT1):c.954T>A (p.Ser318Arg)

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