ClinVar Miner

List of variants studied for Anterior segment dysgenesis 6

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=) rs1056837 0.49486
NM_000104.4(CYP1B1):c.1294= (p.Leu432=) rs1056836 0.48746
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs) rs72549380 0.00024
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387 0.00022
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys) rs72480442 0.00021
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys) rs148542782 0.00013
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_000104.4(CYP1B1):c.1310C>T (p.Pro437Leu) rs56175199 0.00005
NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp) rs28936701 0.00004
NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter) rs72549381 0.00003
NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met) rs72549379 0.00002
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser) rs768047511 0.00002
NM_000104.4(CYP1B1):c.1330C>T (p.Arg444Ter) rs377049098 0.00002
NM_000104.4(CYP1B1):c.1331G>A (p.Arg444Gln) rs72549376 0.00001
NM_000104.4(CYP1B1):c.517G>A (p.Glu173Lys) rs72481807 0.00001
NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter) rs72549388 0.00001
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu) rs529769268 0.00001
NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter) rs778202993 0.00001
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser) rs777678299 0.00001
NM_000104.4(CYP1B1):c.1023G>A (p.Trp341Ter)
NM_000104.4(CYP1B1):c.1027CTC[2] (p.Leu345del)
NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter)
NM_000104.4(CYP1B1):c.1111dup (p.Cys371fs)
NM_000104.4(CYP1B1):c.1140dup (p.Val381fs)
NM_000104.4(CYP1B1):c.1153C>T (p.Leu385Phe)
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser)
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.1345del (p.Asp449fs) rs749073455
NM_000104.4(CYP1B1):c.1390dup (p.Ser464fs) rs777515179
NM_000104.4(CYP1B1):c.1409G>A (p.Cys470Tyr) rs104894979
NM_000104.4(CYP1B1):c.158del (p.Gly53fs)
NM_000104.4(CYP1B1):c.170G>A (p.Trp57Ter)
NM_000104.4(CYP1B1):c.181G>A (p.Gly61Arg) rs1682512619
NM_000104.4(CYP1B1):c.256C>T (p.Gln86Ter)
NM_000104.4(CYP1B1):c.277_306delinsGG (p.Pro93fs)
NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) rs72549389
NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp)
NM_000104.4(CYP1B1):c.346_363del (p.Asp116_Ala121del)
NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp) rs944452644
NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs) rs2125316235
NM_000104.4(CYP1B1):c.490C>T (p.Gln164Ter)
NM_000104.4(CYP1B1):c.535del (p.Ala179fs) rs771076928
NM_000104.4(CYP1B1):c.575A>T (p.Asp192Val)
NM_000104.4(CYP1B1):c.58C>T (p.Gln20Ter)
NM_000104.4(CYP1B1):c.783C>A (p.Phe261Leu) rs1558603396
NM_000104.4(CYP1B1):c.794dup (p.Asn265fs)
NM_000104.4(CYP1B1):c.797GCAACTTCA[1] (p.Ser269_Phe271del) rs72466462
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) rs766425037
NM_000104.4(CYP1B1):c.868del (p.Arg290fs)
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) rs587778875
NM_000104.4(CYP1B1):c.872A>G (p.Asp291Gly)
NM_000104.4(CYP1B1):c.92C>A (p.Ala31Asp)
NM_000104.4(CYP1B1):c.970_971dup (p.Thr325fs) rs765666893
NM_000104.4(CYP1B1):c.994C>T (p.Gln332Ter)

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