ClinVar Miner

List of variants reported as pathogenic for Clouston syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NC_000013.10:g.(?_20797176)_21105944del
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872

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