ClinVar Miner

List of variants reported as pathogenic for Ayme-Gripp syndrome by Invitae

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
NC_000016.10:g.(?_78278583)_(80589366_?)del
NC_000016.10:g.(?_79594440)_(79599922_?)del
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) rs1555530022
NM_005360.5(MAF):c.881G>A (p.Arg294Gln) rs1597847611
NM_005360.5(MAF):c.895C>T (p.Arg299Cys) rs786205221

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