ClinVar Miner

List of variants in gene AMER1 reported as likely pathogenic for bone remodeling disease

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_152424.4(AMER1):c.1104_1105dup (p.Gly369fs)
NM_152424.4(AMER1):c.1384del (p.Glu462fs) rs1602067633
NM_152424.4(AMER1):c.1489C>T (p.Arg497Ter) rs1930251154
NM_152424.4(AMER1):c.1575_1590del (p.Tyr526fs)
NM_152424.4(AMER1):c.655del (p.Glu219fs) rs1555933578

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