List of variants in gene NRXN1 reported as likely pathogenic for Pitt-Hopkins-like syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001330078.2(NRXN1):c.772+1032G>A	rs771759988	0.00004
NM_001330078.2(NRXN1):c.772+1133T>C	rs1476850082	0.00001
NM_001330078.2(NRXN1):c.832+1G>A	rs764621123	0.00001
NC_000002.11:g.(?_50750595)_(50765696_?)del
NC_000002.11:g.(?_50847140)_(50850773_?)dup
NC_000002.11:g.(?_50847140)_(51153113_?)dup
NC_000002.12:g.(?_50236769)_(50346969_?)dup
NC_000002.12:g.50531675_50577825del
NM_001330078.2(NRXN1):c.1134+1G>A
NM_001330078.2(NRXN1):c.1135-2A>G	rs1679958581
NM_001330078.2(NRXN1):c.1158+23T>G
NM_001330078.2(NRXN1):c.1759+2T>C	rs2105344238
NM_001330078.2(NRXN1):c.3070+1G>A
NM_001330078.2(NRXN1):c.3364+1G>A
NM_001330078.2(NRXN1):c.3364+1G>T
NM_001330078.2(NRXN1):c.3625del (p.Asp1209fs)	rs2152697284
NM_001330078.2(NRXN1):c.3835C>T (p.Gln1279Ter)	rs2152627014
NM_001330078.2(NRXN1):c.772+1128_772+1129del	rs1558610072
NM_001330078.2(NRXN1):c.833-2A>C

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