ClinVar Miner

List of variants reported as likely pathogenic for X-linked disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (274):
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ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln) rs781862879 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_001252024.2(TRPM1):c.279+147T>G rs150441866 0.00001
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro) rs886044882
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu) rs868953385
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys) rs1569540695
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del) rs2148391915
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter) rs1400504292
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) rs1569442206
NM_001004334.4(GPR179):c.1727del (p.Tyr576fs) rs1567725425
NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter) rs1569334260
NM_001034853.2(RPGR):c.883C>T (p.Gln295Ter) rs2067562961
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001399.5(EDA):c.161A>T (p.His54Leu) rs1569272194
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_033380.3(COL4A5):c.1480G>C (p.Gly494Arg) rs1569493662
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val) rs281874713

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