List of variants reported as benign for Pitt-Hopkins-like syndrome 2 by Illumina Laboratory Services, Illumina

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_001330078.2(NRXN1):c.-281T>C	rs35228545	0.23029
NM_001330078.2(NRXN1):c.-421A>C	rs67661616	0.22388
NM_001330078.2(NRXN1):c.*1911G>T	rs11885824	0.20346
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=)	rs1045874	0.17452
NM_001330078.2(NRXN1):c.-951T>C	rs2287235	0.17294
NM_001330078.2(NRXN1):c.*110G>A	rs1045881	0.14719
NM_001330078.2(NRXN1):c.*1327C>G	rs12998798	0.14393
NM_001330078.2(NRXN1):c.-563G>C	rs62143025	0.07837
NM_001330078.2(NRXN1):c.-602G>A	rs62143026	0.07832
NM_001330078.2(NRXN1):c.-883T>C	rs10188340	0.03596
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=)	rs2303298	0.01844
NM_001330078.2(NRXN1):c.*1692T>C	rs77838429	0.01480
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=)	rs74714098	0.01437
NM_001330078.2(NRXN1):c.*1539C>G	rs112108943	0.01263
NM_001330078.2(NRXN1):c.*2511G>C	rs148938313	0.01190
NM_001330078.2(NRXN1):c.*2878G>A	rs146778534	0.01088
NM_001330078.2(NRXN1):c.*1365A>G	rs147121881	0.01048
NM_001330078.2(NRXN1):c.772+1140G>A	rs61658382	0.00837
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=)	rs80094872	0.00737
NM_001330078.2(NRXN1):c.*2372G>A	rs116370948	0.00580
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=)	rs116236999	0.00578
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=)	rs115211871	0.00535
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)	rs79970751	0.00503
NM_001330078.2(NRXN1):c.*540T>A	rs74421750	0.00411
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)	rs78540316	0.00323
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=)	rs56402642	0.00109
NM_001330078.2(NRXN1):c.*2105A>C	rs112364713

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