ClinVar Miner

List of variants studied for Vissers-Bodmer syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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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.3362C>T (p.Thr1121Met) rs1277326354 0.00001
NM_016284.5(CNOT1):c.4433G>A (p.Arg1478His) rs757123511 0.00001
NM_016284.5(CNOT1):c.2035A>C (p.Asn679His) rs1369622321
NM_016284.5(CNOT1):c.4385T>C (p.Leu1462Pro)

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