ClinVar Miner

List of variants in gene combination ARX, LOC109610631 reported as uncertain significance for obsolete MRX52

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.455C>G (p.Ala152Gly) rs1184388194 0.00003
NM_139058.3(ARX):c.418G>T (p.Asp140Tyr) rs888222904 0.00002
NM_139058.3(ARX):c.430G>T (p.Ala144Ser) rs1253162910 0.00001
NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup) rs797045302 0.00001
NC_000023.10:g.(?_25022767)_(25033874_?)dup
NC_000023.10:g.(?_25028377)_(25033854_?)dup
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del) rs1156871090
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del) rs387906492
NM_139058.3(ARX):c.311C>T (p.Ala104Val)
NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del) rs1470521514
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del) rs2147324337
NM_139058.3(ARX):c.336_338del (p.Ala115del) rs2048713322
NM_139058.3(ARX):c.336_341del (p.Ala114_Ala115del)
NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla)
NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala) rs2147324326
NM_139058.3(ARX):c.346A>G (p.Thr116Ala) rs1449728469
NM_139058.3(ARX):c.347C>T (p.Thr116Met)
NM_139058.3(ARX):c.365G>A (p.Arg122His) rs1335963054
NM_139058.3(ARX):c.373G>A (p.Ala125Thr) rs1349449662
NM_139058.3(ARX):c.389C>T (p.Pro130Leu) rs1064795129
NM_139058.3(ARX):c.398C>T (p.Ala133Val) rs1601948689
NM_139058.3(ARX):c.404C>T (p.Pro135Leu) rs1569395563
NM_139058.3(ARX):c.411A>C (p.Glu137Asp) rs1601948681
NM_139058.3(ARX):c.415C>A (p.Pro139Thr) rs2048712673
NM_139058.3(ARX):c.416C>T (p.Pro139Leu)
NM_139058.3(ARX):c.428G>C (p.Gly143Ala) rs2048712574
NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del) rs1251374008
NM_139058.3(ARX):c.437C>G (p.Ala146Gly)
NM_139058.3(ARX):c.437C>T (p.Ala146Val) rs1391577394
NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup) rs1460450589
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup) rs750585274
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_139058.3(ARX):c.442G>C (p.Ala148Pro)
NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla)
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup) rs398124512
NM_139058.3(ARX):c.448G>A (p.Ala150Thr)
NM_139058.3(ARX):c.449C>T (p.Ala150Val) rs2048712353
NM_139058.3(ARX):c.452C>T (p.Ala151Val) rs1439646032
NM_139058.3(ARX):c.454G>A (p.Ala152Thr) rs587783201

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