ClinVar Miner

Variants in gene NRXN1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 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.24C>T (p.Arg8=) rs200113281 0.00057
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=) rs199714221 0.00008
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=) rs201212909 0.00008
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155 0.00005
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) rs587781101 0.00004
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=) rs200464704 0.00003
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040

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