ClinVar Miner

List of variants in gene HES7 studied for bone development disease

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser) rs1332109041 0.00001
NM_001165967.2(HES7):c.113T>C (p.Leu38Pro)
NM_001165967.2(HES7):c.172A>G (p.Ile58Val) rs387906979
NM_001165967.2(HES7):c.173T>G (p.Ile58Arg)
NM_001165967.2(HES7):c.400_409dup (p.Arg137fs) rs398122970
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp) rs113994160

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