ClinVar Miner

List of variants in gene NLGN4X reported as uncertain significance for Inborn genetic diseases

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_181332.3(NLGN4X):c.971A>G (p.Lys324Arg) rs750826324 0.00008
NM_181332.3(NLGN4X):c.1144G>A (p.Gly382Ser) rs760969834 0.00003
NM_181332.3(NLGN4X):c.1054G>A (p.Asp352Asn) rs1412018300 0.00001
NM_181332.3(NLGN4X):c.2284C>G (p.Leu762Val) rs764361221 0.00001
NM_181332.3(NLGN4X):c.2324C>T (p.Thr775Met) rs746531523 0.00001
NM_181332.3(NLGN4X):c.1235G>A (p.Gly412Glu)
NM_181332.3(NLGN4X):c.1267A>G (p.Met423Val)
NM_181332.3(NLGN4X):c.1301A>G (p.Glu434Gly)
NM_181332.3(NLGN4X):c.1477G>C (p.Val493Leu)
NM_181332.3(NLGN4X):c.1480C>G (p.Pro494Ala) rs1569118116
NM_181332.3(NLGN4X):c.1658G>A (p.Arg553His)
NM_181332.3(NLGN4X):c.1796A>G (p.Asn599Ser) rs2031314764
NM_181332.3(NLGN4X):c.1874C>A (p.Thr625Asn)
NM_181332.3(NLGN4X):c.1879C>T (p.Arg627Ter) rs1226379186
NM_181332.3(NLGN4X):c.1880G>A (p.Arg627Gln) rs1569110556
NM_181332.3(NLGN4X):c.1897T>C (p.Trp633Arg)
NM_181332.3(NLGN4X):c.1984A>G (p.Thr662Ala)
NM_181332.3(NLGN4X):c.2020G>A (p.Glu674Lys)
NM_181332.3(NLGN4X):c.2288C>T (p.Thr763Met)
NM_181332.3(NLGN4X):c.2390C>A (p.Thr797Asn)
NM_181332.3(NLGN4X):c.2405A>G (p.Gln802Arg)
NM_181332.3(NLGN4X):c.268C>G (p.Pro90Ala)
NM_181332.3(NLGN4X):c.292A>G (p.Thr98Ala)
NM_181332.3(NLGN4X):c.553A>G (p.Ile185Val)
NM_181332.3(NLGN4X):c.560G>A (p.Gly187Asp) rs1569195529
NM_181332.3(NLGN4X):c.586G>A (p.Val196Ile)
NM_181332.3(NLGN4X):c.592G>A (p.Val198Met)
NM_181332.3(NLGN4X):c.59T>C (p.Met20Thr)
NM_181332.3(NLGN4X):c.847G>T (p.Ala283Ser)

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