ClinVar Miner

List of variants in gene NLGN3 studied for Inborn genetic diseases

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_181303.2(NLGN3):c.2250C>T (p.Ala750=) rs5981083 0.01113
NM_181303.2(NLGN3):c.1954A>G (p.Thr652Ala) rs144914894 0.00197
NM_181303.2(NLGN3):c.2034C>T (p.Tyr678=) rs143055854 0.00126
NM_181303.2(NLGN3):c.807C>T (p.Ser269=) rs151276700 0.00064
NM_181303.2(NLGN3):c.603C>G (p.Pro201=) rs35794236 0.00055
NM_181303.2(NLGN3):c.594T>C (p.Gly198=) rs144247281 0.00053
NM_181303.2(NLGN3):c.2370C>T (p.Pro790=) rs372131545 0.00025
NM_181303.2(NLGN3):c.10C>T (p.Arg4Trp) rs376877146 0.00009
NM_181303.2(NLGN3):c.282G>A (p.Ser94=) rs143817848 0.00007
NM_181303.2(NLGN3):c.1818C>T (p.Ile606=) rs781336181 0.00005
NM_181303.2(NLGN3):c.2220C>T (p.Pro740=) rs138181564 0.00004
NM_181303.2(NLGN3):c.170C>T (p.Pro57Leu) rs757975693 0.00003
NM_181303.2(NLGN3):c.2353C>T (p.Arg785Cys) rs746346104 0.00003
NM_181303.2(NLGN3):c.-5G>A rs752272796 0.00001
NM_181303.2(NLGN3):c.1976C>A (p.Thr659Asn) rs751330179 0.00001
NM_181303.2(NLGN3):c.51G>A (p.Thr17=) rs1330121111 0.00001
NM_181303.2(NLGN3):c.1036G>A (p.Val346Met)
NM_181303.2(NLGN3):c.1089G>A (p.Gln363=)
NM_181303.2(NLGN3):c.1110C>T (p.Tyr370=)
NM_181303.2(NLGN3):c.1233C>G (p.Leu411=)
NM_181303.2(NLGN3):c.1371G>A (p.Met457Ile)
NM_181303.2(NLGN3):c.1573G>T (p.Asp525Tyr)
NM_181303.2(NLGN3):c.1760G>A (p.Arg587His)
NM_181303.2(NLGN3):c.1950G>A (p.Pro650=)
NM_181303.2(NLGN3):c.2018C>A (p.Ala673Asp)
NM_181303.2(NLGN3):c.2040C>T (p.Asn680=)
NM_181303.2(NLGN3):c.214dup (p.Val72fs) rs34927195
NM_181303.2(NLGN3):c.2215G>A (p.Glu739Lys)
NM_181303.2(NLGN3):c.222C>T (p.Tyr74=)
NM_181303.2(NLGN3):c.229C>T (p.Pro77Ser)
NM_181303.2(NLGN3):c.2320G>A (p.Glu774Lys)
NM_181303.2(NLGN3):c.2337C>A (p.Pro779=)
NM_181303.2(NLGN3):c.241G>A (p.Glu81Lys)
NM_181303.2(NLGN3):c.2435C>G (p.Thr812Ser) rs2092465430
NM_181303.2(NLGN3):c.413A>G (p.Asn138Ser)
NM_181303.2(NLGN3):c.414C>T (p.Asn138=)
NM_181303.2(NLGN3):c.48C>T (p.Pro16=)
NM_181303.2(NLGN3):c.577+1G>A
NM_181303.2(NLGN3):c.625G>A (p.Gly209Ser)
NM_181303.2(NLGN3):c.642G>C (p.Gly214=) rs1569484330
NM_181303.2(NLGN3):c.694G>A (p.Val232Ile)
NM_181303.2(NLGN3):c.696C>T (p.Val232=)
NM_181303.2(NLGN3):c.754G>T (p.Ala252Ser)
NM_181303.2(NLGN3):c.825C>T (p.Phe275=)
NM_181303.2(NLGN3):c.826G>A (p.Gly276Arg)
NM_181303.2(NLGN3):c.861G>A (p.Ser287=)
NM_181303.2(NLGN3):c.96G>A (p.Ala32=)

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