ClinVar Miner

List of variants in gene ARX, LOC109610631 studied for Inborn genetic diseases

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.447G>C (p.Ala149=) rs745705522 0.00069
NM_139058.3(ARX):c.303A>G (p.Ala101=) rs797045295 0.00008
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196 0.00002
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del) rs1156871090
NM_139058.3(ARX):c.306G>A (p.Ala102=) rs587783196
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del) rs387906492
NM_139058.3(ARX):c.368G>T (p.Gly123Val) rs2048712953
NM_139058.3(ARX):c.395C>T (p.Thr132Ile)
NM_139058.3(ARX):c.404C>T (p.Pro135Leu) rs1569395563
NM_139058.3(ARX):c.409G>A (p.Glu137Lys) rs1057523073
NM_139058.3(ARX):c.421G>A (p.Gly141Ser) rs2048712606
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup) rs1569395541
NM_139058.3(ARX):c.441A>C (p.Ala147=) rs797045301
NM_139058.3(ARX):c.441A>T (p.Ala147=)
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139058.3(ARX):c.445G>C (p.Ala149Pro)
NM_139058.3(ARX):c.446C>A (p.Ala149Glu)
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.454G>A (p.Ala152Thr) rs587783201
NM_139058.3(ARX):c.462G>T (p.Ala154=)

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