ClinVar Miner

List of variants in gene DMXL2 reported as pathogenic for not provided

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NC_000015.10:g.51451683_51451698del
NC_000015.9:g.(?_51745727)_(51745858_?)del
NC_000015.9:g.(?_51755556)_(51773840_?)del
NM_001378457.1(DMXL2):c.1315G>T (p.Glu439Ter)
NM_001378457.1(DMXL2):c.1519_1520insGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATCCTG (p.Asp507fs)
NM_001378457.1(DMXL2):c.2457dup (p.Asn820Ter)
NM_001378457.1(DMXL2):c.2485C>T (p.Arg829Ter)
NM_001378457.1(DMXL2):c.2620_2621del (p.Glu874fs)
NM_001378457.1(DMXL2):c.2778del (p.Ala928fs)
NM_001378457.1(DMXL2):c.3080G>A (p.Trp1027Ter)
NM_001378457.1(DMXL2):c.326del (p.Phe108_Leu109insTer)
NM_001378457.1(DMXL2):c.326dup (p.Leu109fs)
NM_001378457.1(DMXL2):c.342C>G (p.Tyr114Ter)
NM_001378457.1(DMXL2):c.3437_3440del (p.Phe1146fs)
NM_001378457.1(DMXL2):c.3759_3760del (p.Trp1254fs)
NM_001378457.1(DMXL2):c.4252C>T (p.Arg1418Ter)
NM_001378457.1(DMXL2):c.4739T>A (p.Leu1580Ter)
NM_001378457.1(DMXL2):c.4768C>T (p.Gln1590Ter)
NM_001378457.1(DMXL2):c.4876C>T (p.Gln1626Ter)
NM_001378457.1(DMXL2):c.5112G>A (p.Trp1704Ter)
NM_001378457.1(DMXL2):c.5294C>G (p.Ser1765Ter)
NM_001378457.1(DMXL2):c.5428C>T (p.Arg1810Ter)
NM_001378457.1(DMXL2):c.5554C>T (p.Arg1852Ter)
NM_001378457.1(DMXL2):c.6319_6320del (p.Glu2106_Ser2107insTer)
NM_001378457.1(DMXL2):c.6430C>T (p.Arg2144Ter) rs1372482877
NM_001378457.1(DMXL2):c.6955C>T (p.Gln2319Ter) rs1303032996
NM_001378457.1(DMXL2):c.6960G>A (p.Trp2320Ter)
NM_001378457.1(DMXL2):c.7031del (p.Leu2344fs)
NM_001378457.1(DMXL2):c.710del (p.Gly237fs)
NM_001378457.1(DMXL2):c.7138C>T (p.Arg2380Ter)
NM_001378457.1(DMXL2):c.7365del (p.Ser2456fs)
NM_001378457.1(DMXL2):c.7417_7418dup (p.Ile2475fs)
NM_001378457.1(DMXL2):c.7689del (p.Gln2564fs)
NM_001378457.1(DMXL2):c.8180_8181del (p.Glu2726_Tyr2727insTer)
NM_001378457.1(DMXL2):c.8542G>T (p.Gly2848Ter)

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