ClinVar Miner

List of variants studied for X-linked Opitz G/BBB syndrome

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000381.4(MID1):c.498G>A (p.Pro166=) rs7391874 0.00376
NM_000381.4(MID1):c.1242C>T (p.Tyr414=) rs142718564 0.00269
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_000381.4(MID1):c.340G>A (p.Ala114Thr) rs749995175 0.00003
NM_000381.4(MID1):c.1298C>T (p.Ser433Leu) rs780880323 0.00002
NM_000381.4(MID1):c.107G>A (p.Arg36His) rs1270080835 0.00001
NM_000381.4(MID1):c.1279G>A (p.Val427Ile) rs755985917 0.00001
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) rs745554420 0.00001
NG_008197.2:g.(218402_271087)_(271804_315503)dup
NM_000381.4(MID1):c.1102C>T (p.Arg368Ter) rs2147287460
NM_000381.4(MID1):c.1142-1G>T rs1929600096
NM_000381.4(MID1):c.1142-2A>G
NM_000381.4(MID1):c.1174_1178del (p.Cys392fs)
NM_000381.4(MID1):c.1310G>A (p.Trp437Ter) rs2147266860
NM_000381.4(MID1):c.1311GAT[1] (p.Met438del) rs1569270035
NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) rs1556004366
NM_000381.4(MID1):c.1415G>A (p.Arg472His)
NM_000381.4(MID1):c.1454del (p.Pro485fs) rs1556003200
NM_000381.4(MID1):c.1495G>A (p.Val499Met) rs868016081
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer) rs1569268029
NM_000381.4(MID1):c.1558dup (p.Glu520fs) rs1569268013
NM_000381.4(MID1):c.1601_1624dup (p.His541_Tyr542insLeuPheIleAspSerGlyArgHis)
NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) rs1556003095
NM_000381.4(MID1):c.1609_1611dup (p.Asp537_Ser538insAsp)
NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)
NM_000381.4(MID1):c.1655+1G>A rs1928556991
NM_000381.4(MID1):c.1663A>G (p.Ile555Val) rs398123341
NM_000381.4(MID1):c.1679A>G (p.Lys560Arg) rs1057520313
NM_000381.4(MID1):c.1688dup (p.Lys564fs)
NM_000381.4(MID1):c.1725G>A (p.Trp575Ter) rs1556001968
NM_000381.4(MID1):c.1798del (p.His600fs)
NM_000381.4(MID1):c.1798dup (p.His600fs) rs398123342
NM_000381.4(MID1):c.1814G>T (p.Gly605Val)
NM_000381.4(MID1):c.1863_1879dup (p.Tyr627Ter) rs2147252384
NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) rs28934611
NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter) rs1556001856
NM_000381.4(MID1):c.1913_1936inv (p.Cys638_Lys646delinsLeuPheHisThrValLysValGlyGln)
NM_000381.4(MID1):c.1917del (p.Thr640fs) rs1569265497
NM_000381.4(MID1):c.1924A>C (p.Thr642Pro) rs2147252300
NM_000381.4(MID1):c.343G>T (p.Glu115Ter) rs104894865
NM_000381.4(MID1):c.388G>A (p.Ala130Thr) rs1934582371
NM_000381.4(MID1):c.476A>G (p.His159Arg) rs1934579726
NM_000381.4(MID1):c.535G>A (p.Glu179Lys) rs2147468779
NM_000381.4(MID1):c.671_674del (p.Glu224fs)
NM_000381.4(MID1):c.673_674del (p.Glu224_Ser225insTer) rs2147369813
NM_000381.4(MID1):c.693T>G (p.Ile231Met)
NM_000381.4(MID1):c.712G>T (p.Glu238Ter) rs387906719
NM_000381.4(MID1):c.757-1G>A rs1555895725
NM_000381.4(MID1):c.757-1G>C rs1555895725
NM_000381.4(MID1):c.757-5831A>G rs1555896387
NM_000381.4(MID1):c.769C>A (p.Arg257Ser)
NM_000381.4(MID1):c.829C>T (p.Arg277Ter) rs1555895704
NM_000381.4(MID1):c.849G>C (p.Lys283Asn)
NM_000381.4(MID1):c.884T>C (p.Leu295Pro) rs104894866
NM_000381.4(MID1):c.889C>T (p.Gln297Ter) rs2147299486
NM_000381.4(MID1):c.922del (p.Arg308fs) rs1555894390

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