ClinVar Miner

List of variants in gene ZNHIT3 reported as pathogenic for PEHO syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) rs148890852

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