ClinVar Miner

List of variants in gene NRXN1 reported as benign for Pitt-Hopkins-like syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.3364+20T>C rs3213756 0.25608
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.4217-16A>C rs74520052 0.00964
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.2143+19A>G rs150513096 0.00534
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_001330078.2(NRXN1):c.1760-16C>T rs79422704 0.00472
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.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993 0.00135
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00096
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001330078.2(NRXN1):c.2347+18C>A rs150460414 0.00016
NM_001330078.2(NRXN1):c.821-4A>G rs768708962 0.00009
NM_001330078.2(NRXN1):c.1833T>C (p.Asp611=) rs190377845 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001330078.2(NRXN1):c.2313A>G (p.Leu771=) rs779330397 0.00005
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155 0.00005
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val) rs765360600 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_001330078.2(NRXN1):c.*2105A>C rs112364713
NM_001330078.2(NRXN1):c.1135-13dup
NM_001330078.2(NRXN1):c.1760-11C>G rs199550097
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) rs201029409
NM_001330078.2(NRXN1):c.2348-13C>A
NM_001330078.2(NRXN1):c.3547-14dup
NM_001330078.2(NRXN1):c.3547-18dup rs749772679
NM_001330078.2(NRXN1):c.4216+17T>A rs200836763
NM_001330078.2(NRXN1):c.4216+17del rs2104381080

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