ClinVar Miner

List of variants in gene NRXN1 studied for Pitt-Hopkins-like syndrome

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.*878_*879dup rs886056164 0.00009
NM_001330078.2(NRXN1):c.4060A>T (p.Thr1354Ser) rs202006815 0.00008
NM_001330078.2(NRXN1):c.*2387_*2389dup rs530539369 0.00002
NM_001330078.2(NRXN1):c.*385G>A rs886056167 0.00001
NM_001135659.1(NRXN1):c.-1453_-1452delCT rs70958640
NM_001135659.1(NRXN1):c.-1453_-1452dupCT rs70958640
NM_001135659.1(NRXN1):c.-1455_-1452dupCTCT rs70958640
NM_001135659.1(NRXN1):c.-1457_-1452delCTCTCT rs70958640
NM_001135659.1(NRXN1):c.-1457_-1452dupCTCTCT rs70958640
NM_001135659.1(NRXN1):c.-1459_-1452dupCTCTCTCT rs70958640
NM_001135659.1(NRXN1):c.-1461_-1452dupCTCTCTCTCT rs70958640
NM_001135659.1(NRXN1):c.-1463_-1452delCTCTCTCTCTCT rs70958640
NM_001135659.1(NRXN1):c.-1475_-1474insACTCTC rs886056187
NM_001135659.2(NRXN1):c.-1255C>G rs560985559
NM_001330078.2(NRXN1):c.*1049TTCTT[1] rs371180727
NM_001330078.2(NRXN1):c.*1201AC[17] rs66612444
NM_001330078.2(NRXN1):c.*1201AC[18] rs66612444
NM_001330078.2(NRXN1):c.*1201AC[20] rs66612444
NM_001330078.2(NRXN1):c.*1201AC[24] rs66612444
NM_001330078.2(NRXN1):c.*1201AC[25] rs66612444
NM_001330078.2(NRXN1):c.*1723_*1724del rs886056160
NM_001330078.2(NRXN1):c.*2384del rs879374430
NM_001330078.2(NRXN1):c.*2384dup rs879374430
NM_001330078.2(NRXN1):c.*2672_*2675dup rs556394274
NM_001330078.2(NRXN1):c.*3387_*3391dup rs771041201
NM_001330078.2(NRXN1):c.*613del rs886056166
NM_001330078.2(NRXN1):c.*941dup rs3839057
NM_001330078.2(NRXN1):c.*967_*970dup rs3839058
NM_004801.5(NRXN1):c.-1371dup rs886056176
NM_004801.5(NRXN1):c.-1452_-1447delTTTCTT rs886056181
NM_004801.5(NRXN1):c.-1454_-1451TCTT[2] rs886056180
NM_004801.5(NRXN1):c.-1460_-1451delTCTCTCTCTT rs886056182

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