ClinVar Miner

List of variants in gene NRXN1 studied for chromosome 2P16.3 deletion syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299
NM_001330078.2(NRXN1):c.1784G>A (p.Arg595His) rs761279630
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029
NM_001330078.2(NRXN1):c.3365-109902C>T rs113067443
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met)
NM_001330078.2(NRXN1):c.3542A>G (p.His1181Arg) rs200915287
NM_001330078.2(NRXN1):c.4011G>C (p.Glu1337Asp) rs200935246
NM_001330078.2(NRXN1):c.4291_4294dup (p.Gly1432fs) rs1558507406
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
Single allele

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