ClinVar Miner

List of variants reported as likely benign for Pitt-Hopkins-like syndrome 2

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Total variants: 14
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HGVS dbSNP
NM_001330078.2(NRXN1):c.1059A>C (p.Ala353=) rs200259338
NM_001330078.2(NRXN1):c.1135-8C>T rs1430859209
NM_001330078.2(NRXN1):c.1269C>T (p.Ala423=) rs753264637
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330078.2(NRXN1):c.1800T>C (p.Ala600=) rs1553760251
NM_001330078.2(NRXN1):c.2446C>A (p.Arg816=) rs200325059
NM_001330078.2(NRXN1):c.2526G>A (p.Leu842=) rs868353645
NM_001330078.2(NRXN1):c.276C>T (p.Ser92=) rs1553516780
NM_001330078.2(NRXN1):c.324G>A (p.Pro108=) rs199595253
NM_001330078.2(NRXN1):c.3365-110131T>G rs193267438
NM_001330078.2(NRXN1):c.3378T>C (p.Tyr1126=) rs1420076341
NM_001330078.2(NRXN1):c.3718+7A>G rs752561425
NM_001330078.2(NRXN1):c.4338T>C (p.Leu1446=) rs796052759
NM_001330078.2(NRXN1):c.546G>A (p.Gly182=) rs1464488808

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