ClinVar Miner

List of variants studied for KBG syndrome by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464 0.00035
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038

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