ClinVar Miner

List of variants studied for Atrophia bulborum hereditaria

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867 0.00003
NM_000266.4(NDP):c.-207-1G>A
NM_000266.4(NDP):c.103del (p.Asp35fs) rs2147209204
NM_000266.4(NDP):c.109C>T (p.Arg37Ter) rs398123283
NM_000266.4(NDP):c.125A>G (p.His42Arg) rs104894874
NM_000266.4(NDP):c.131A>G (p.Tyr44Cys) rs104894870
NM_000266.4(NDP):c.131_132del (p.Tyr44fs) rs2519320479
NM_000266.4(NDP):c.134T>A (p.Val45Glu) rs137852221
NM_000266.4(NDP):c.143T>C (p.Ile48Thr)
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000266.4(NDP):c.179T>A (p.Val60Glu) rs104894869
NM_000266.4(NDP):c.181C>A (p.Leu61Ile) rs104894880
NM_000266.4(NDP):c.181C>T (p.Leu61Phe) rs104894880
NM_000266.4(NDP):c.1A>G (p.Met1Val) rs28933685
NM_000266.4(NDP):c.206G>C (p.Cys69Ser) rs104894872
NM_000266.4(NDP):c.218C>A (p.Ser73Ter) rs104894882
NM_000266.4(NDP):c.220C>T (p.Arg74Cys) rs727504031
NM_000266.4(NDP):c.223_224dup (p.Glu76fs) rs2519315108
NM_000266.4(NDP):c.224C>G (p.Ser75Cys) rs104894868
NM_000266.4(NDP):c.242T>C (p.Phe81Ser) rs2147204801
NM_000266.4(NDP):c.268C>T (p.Arg90Cys) rs1057518793
NM_000266.4(NDP):c.269G>C (p.Arg90Pro) rs104894867
NM_000266.4(NDP):c.287G>A (p.Cys96Tyr) rs104894871
NM_000266.4(NDP):c.288C>G (p.Cys96Trp) rs104894877
NM_000266.4(NDP):c.290_295dup (p.Pro98_Gln99insArgPro)
NM_000266.4(NDP):c.302C>T (p.Ser101Phe) rs104894883
NM_000266.4(NDP):c.307C>G (p.Leu103Val) rs1235711153
NM_000266.4(NDP):c.313G>A (p.Ala105Thr) rs104894875
NM_000266.4(NDP):c.355A>C (p.Thr119Pro) rs2147204677
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000266.4(NDP):c.384C>A (p.Cys128Ter) rs104894873
NM_000266.4(NDP):c.38T>G (p.Leu13Arg) rs104894879
NM_000266.4(NDP):c.3G>A (p.Met1Ile) rs2147209281
NM_000266.4(NDP):c.58G>T (p.Gly20Ter) rs200594881
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) rs878853243

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