ClinVar Miner

List of variants in gene NRXN1 reported as uncertain significance for brain disorder

Included ClinVar conditions (1840):
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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276 0.00025
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777 0.00024
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00021
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823 0.00019
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303 0.00008
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246 0.00006
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_001330078.2(NRXN1):c.3365-109902C>T rs113067443 0.00004
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) rs138261348 0.00004
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) rs200604893 0.00004
NM_001330078.2(NRXN1):c.338C>T (p.Ala113Val) rs201542547 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) rs781442387 0.00001
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) rs761279630 0.00001
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256 0.00001
NM_001330078.2(NRXN1):c.3375A>G (p.Thr1125=) rs757748286 0.00001
NM_001330078.2(NRXN1):c.739C>G (p.Arg247Gly) rs200009780 0.00001
NC_000002.12:g.(?_50574106)_(50580198_?)del
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys) rs1156747096
NM_001330078.2(NRXN1):c.2509G>C (p.Gly837Arg) rs2104921155
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) rs796052779
NM_001330078.2(NRXN1):c.3071-1G>C
NM_001330078.2(NRXN1):c.314C>G (p.Ala105Gly)
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) rs200915287
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) rs199697191
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
NM_001330078.2(NRXN1):c.832+42589_832+123997del
Single allele

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