ClinVar Miner

List of variants studied for Chromosome 2p16.3 deletion syndrome

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Total variants: 4
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 2p16.3(chr2:50399054-50579740)x1
NM_001330078.2(NRXN1):c.1783C>T (p.Arg595Cys) rs1156747096
NM_001330078.2(NRXN1):c.4070C>G (p.Thr1357Ser) rs200974417
Single allele

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