ClinVar Miner

List of variants studied for Vissers-Bodmer syndrome

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_016284.5(CNOT1):c.4006+12A>G rs2241570 0.38899
NM_016284.5(CNOT1):c.4716C>T (p.Tyr1572=) rs11540994 0.38894
NM_016284.5(CNOT1):c.2919G>A (p.Gln973=) rs11866002 0.38888
NM_016284.5(CNOT1):c.909A>G (p.Gly303=) rs17854029 0.34638
NM_016284.5(CNOT1):c.4128G>A (p.Leu1376=) rs246258 0.24002
NM_016284.5(CNOT1):c.5896-5C>T rs37060 0.23617
NM_016284.5(CNOT1):c.2129A>C (p.Gln710Pro) rs770253714 0.00001
GRCh37/hg19 16q21(chr16:58587636-58610536)x1
NM_016284.5(CNOT1):c.-175+5G>A rs1015293911
NM_016284.5(CNOT1):c.1004_1005dup (p.Trp336fs) rs2151976617
NM_016284.5(CNOT1):c.102+2T>C rs2042382246
NM_016284.5(CNOT1):c.2035A>C (p.Asn679His)
NM_016284.5(CNOT1):c.2698C>T (p.Arg900Cys) rs2040599000
NM_016284.5(CNOT1):c.3055C>T (p.Gln1019Ter)
NM_016284.5(CNOT1):c.3362C>T (p.Thr1121Met)
NM_016284.5(CNOT1):c.3398A>G (p.Tyr1133Cys) rs2151928424
NM_016284.5(CNOT1):c.3710C>T (p.Pro1237Leu) rs2040285777
NM_016284.5(CNOT1):c.3750+5G>A
NM_016284.5(CNOT1):c.3754_3756dup (p.Phe1252_Arg1253insPhe)
NM_016284.5(CNOT1):c.4141C>G (p.Pro1381Ala) rs779708330
NM_016284.5(CNOT1):c.434-2A>G
NM_016284.5(CNOT1):c.4432C>T (p.Arg1478Cys) rs1567396193
NM_016284.5(CNOT1):c.4524G>A (p.Gln1508=) rs2151916522
NM_016284.5(CNOT1):c.5316T>G (p.Asp1772Glu) rs2151911582
NM_016284.5(CNOT1):c.550del (p.Leu184fs)
NM_016284.5(CNOT1):c.608_611del (p.Ile203fs) rs1064795181
NM_016284.5(CNOT1):c.6196delinsAA (p.Gln2066fs) rs2151901930
NM_016284.5(CNOT1):c.668_669inv (p.Leu223Arg)
NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter) rs1597562609
NM_016284.5(CNOT1):c.97C>T (p.Gln33Ter) rs2042382430

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