ClinVar Miner

List of variants reported as likely benign for Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.3365-110075G>A rs189873392 0.00970
NM_001330078.2(NRXN1):c.4217-16A>C rs74520052 0.00964
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=) rs201135028 0.00016
NM_001330078.2(NRXN1):c.3365-109899A>G rs562219421 0.00012
NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=) rs764347791 0.00001

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