ClinVar Miner

List of variants reported as benign for Pitt-Hopkins-like syndrome by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128

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