ClinVar Miner

List of variants reported as uncertain significance for Hypomyelinating leukodystrophy 6

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ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_006087.4(TUBB4A):c.*627A>C rs1469859932 0.01716
NM_006087.4(TUBB4A):c.*800G>A rs781702991 0.00006
NM_006087.4(TUBB4A):c.1316C>T (p.Ala439Val) rs199569370 0.00003
NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=) rs146906606 0.00002
NM_006087.4(TUBB4A):c.*579C>T rs143637409 0.00001
NM_006087.4(TUBB4A):c.*86G>A rs867164852 0.00001
NM_006087.4(TUBB4A):c.270C>A (p.Phe90Leu) rs369521667 0.00001
NC_000019.9:g.(?_6495175)_(6496252_?)del
NC_000019.9:g.(?_6495175)_(6496252_?)dup
NC_000019.9:g.(?_6495175)_(6502223_?)del
NM_001289123.2(TUBB4A):c.10G>A (p.Gly4Arg)
NM_001289123.2(TUBB4A):c.13del (p.Ala5fs) rs977060759
NM_006087.4(TUBB4A):c.*304C>T rs1914042322
NM_006087.4(TUBB4A):c.*440C>T rs886054651
NM_006087.4(TUBB4A):c.*792C>T rs1914007188
NM_006087.4(TUBB4A):c.1024G>A (p.Val342Met)
NM_006087.4(TUBB4A):c.102C>T (p.Gly34=)
NM_006087.4(TUBB4A):c.1045G>A (p.Val349Met)
NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr) rs886041015
NM_006087.4(TUBB4A):c.1060T>A (p.Cys354Ser)
NM_006087.4(TUBB4A):c.1078G>A (p.Gly360Ser)
NM_006087.4(TUBB4A):c.1078G>C (p.Gly360Arg)
NM_006087.4(TUBB4A):c.1093G>A (p.Ala365Thr)
NM_006087.4(TUBB4A):c.1155C>A (p.Phe385Leu) rs1914088089
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) rs886041020
NM_006087.4(TUBB4A):c.1172G>T (p.Arg391Leu) rs886041021
NM_006087.4(TUBB4A):c.1196C>T (p.Thr399Met)
NM_006087.4(TUBB4A):c.1198G>A (p.Gly400Ser)
NM_006087.4(TUBB4A):c.1211A>T (p.Asp404Val)
NM_006087.4(TUBB4A):c.1213G>A (p.Glu405Lys) rs745756691
NM_006087.4(TUBB4A):c.1216A>T (p.Met406Leu)
NM_006087.4(TUBB4A):c.1291G>A (p.Glu431Lys)
NM_006087.4(TUBB4A):c.1316C>A (p.Ala439Glu) rs199569370
NM_006087.4(TUBB4A):c.1316_1327del (p.Ala439_Glu442del)
NM_006087.4(TUBB4A):c.1331C>T (p.Ala444Val)
NM_006087.4(TUBB4A):c.157G>A (p.Glu53Lys)
NM_006087.4(TUBB4A):c.167-12G>C rs1914527740
NM_006087.4(TUBB4A):c.230G>A (p.Arg77His) rs746549148
NM_006087.4(TUBB4A):c.238C>T (p.Pro80Ser) rs1599414391
NM_006087.4(TUBB4A):c.24G>T (p.Gln8His)
NM_006087.4(TUBB4A):c.271G>A (p.Val91Met) rs1914520090
NM_006087.4(TUBB4A):c.343G>A (p.Ala115Thr)
NM_006087.4(TUBB4A):c.361C>T (p.Arg121Trp) rs1914173853
NM_006087.4(TUBB4A):c.362G>A (p.Arg121Gln) rs1472127260
NM_006087.4(TUBB4A):c.373G>C (p.Glu125Gln)
NM_006087.4(TUBB4A):c.375G>T (p.Glu125Asp)
NM_006087.4(TUBB4A):c.436G>A (p.Gly146Arg)
NM_006087.4(TUBB4A):c.451C>T (p.Leu151Phe) rs2145245878
NM_006087.4(TUBB4A):c.464T>C (p.Ile155Thr) rs2145245803
NM_006087.4(TUBB4A):c.464_465insGAGT (p.Ile155fs) rs1160028307
NM_006087.4(TUBB4A):c.466C>T (p.Arg156Cys)
NM_006087.4(TUBB4A):c.475_476inv (p.Phe159Asn)
NM_006087.4(TUBB4A):c.535G>A (p.Val179Met)
NM_006087.4(TUBB4A):c.539T>C (p.Val180Ala) rs2145245505
NM_006087.4(TUBB4A):c.557C>T (p.Thr186Met) rs1914148166
NM_006087.4(TUBB4A):c.577G>A (p.Val193Met)
NM_006087.4(TUBB4A):c.630C>T (p.Ile210=) rs1268743523
NM_006087.4(TUBB4A):c.638G>A (p.Arg213His)
NM_006087.4(TUBB4A):c.664T>G (p.Tyr222Asp)
NM_006087.4(TUBB4A):c.673C>T (p.Leu225Phe) rs1568409639
NM_006087.4(TUBB4A):c.67G>A (p.Val23Ile)
NM_006087.4(TUBB4A):c.703G>A (p.Gly235Arg) rs1171027384
NM_006087.4(TUBB4A):c.721C>T (p.Arg241Cys)
NM_006087.4(TUBB4A):c.736C>G (p.Leu246Val) rs2145244734
NM_006087.4(TUBB4A):c.740A>T (p.Asn247Ile)
NM_006087.4(TUBB4A):c.769A>G (p.Met257Val) rs1555754019
NM_006087.4(TUBB4A):c.769A>T (p.Met257Leu) rs1555754019
NM_006087.4(TUBB4A):c.883G>A (p.Asp295Asn)
NM_006087.4(TUBB4A):c.883G>C (p.Asp295His)
NM_006087.4(TUBB4A):c.902C>T (p.Ala301Val)
NM_006087.4(TUBB4A):c.914C>T (p.Pro305Leu)
NM_006087.4(TUBB4A):c.925C>A (p.Arg309Ser)
NM_006087.4(TUBB4A):c.925C>T (p.Arg309Cys)
NM_006087.4(TUBB4A):c.953G>A (p.Arg318Gln)
NM_006087.4(TUBB4A):c.958C>T (p.Arg320Cys) rs1914108021
NM_006087.4(TUBB4A):c.998T>C (p.Val333Ala)

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