ClinVar Miner

List of variants studied for Pitt-Hopkins-like syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_001330078.2(NRXN1):c.3365-109902C>T rs113067443
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712
NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn) rs748508785
NM_014141.6(CNTNAP2):c.324T>C (p.Asp108=) rs756947754
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346

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