ClinVar Miner

List of variants in gene combination CYP11B1, LOC106799833 reported as likely pathogenic for congenital adrenal hyperplasia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000497.4(CYP11B1):c.946G>A (p.Val316Met) rs375833424 0.00005
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp) rs61752786 0.00004
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met) rs104894068 0.00004
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val) rs375892072 0.00003
NM_000497.4(CYP11B1):c.1343G>A (p.Arg448His) rs28934586 0.00002
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000497.4(CYP11B1):c.995G>A (p.Arg332Gln) rs149881706 0.00002
NM_000497.4(CYP11B1):c.1128C>A (p.Tyr376Ter) rs760880418 0.00001
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg) rs1412048304 0.00001
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln) rs764598023 0.00001
NM_000497.4(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755 0.00001
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938 0.00001
NM_000497.4(CYP11B1):c.1361G>A (p.Arg454His) rs367634557 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000497.4(CYP11B1):c.427C>T (p.Arg143Trp) rs140336749 0.00001
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu) rs370266763 0.00001
NM_000497.4(CYP11B1):c.595+1G>A rs1264073726 0.00001
NM_000497.4(CYP11B1):c.596-2A>T rs775946442 0.00001
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser) rs1421641874 0.00001
NM_000497.4(CYP11B1):c.896T>C (p.Leu299Pro) rs387907573 0.00001
NM_000497.4(CYP11B1):c.917C>T (p.Ala306Val) rs387907572 0.00001
NM_000497.4(CYP11B1):c.955-1G>A rs1456715954 0.00001
NM_000497.4(CYP11B1):c.1080del (p.Glu361fs)
NM_000497.4(CYP11B1):c.1111G>A (p.Glu371Lys)
NM_000497.4(CYP11B1):c.1121+1G>A
NM_000497.4(CYP11B1):c.1121G>A (p.Arg374Gln) rs104894062
NM_000497.4(CYP11B1):c.1122-2A>G
NM_000497.4(CYP11B1):c.1136G>T (p.Gly379Val) rs1816901292
NM_000497.4(CYP11B1):c.1136del (p.Gly379fs)
NM_000497.4(CYP11B1):c.1159dup (p.Ser387fs) rs1379392398
NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs) rs758714890
NM_000497.4(CYP11B1):c.1200+1G>T
NM_000497.4(CYP11B1):c.1200+1del rs2130267209
NM_000497.4(CYP11B1):c.1201-1G>A rs1437397442
NM_000497.4(CYP11B1):c.1201-9C>A
NM_000497.4(CYP11B1):c.1205del (p.Leu402fs) rs1554652650
NM_000497.4(CYP11B1):c.1210_1212del (p.Arg404del) rs2130266841
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs) rs2130266157
NM_000497.4(CYP11B1):c.1379TGC[4] (p.Leu464del)
NM_000497.4(CYP11B1):c.1379TGC[6] (p.Leu464_His465insLeu)
NM_000497.4(CYP11B1):c.1398+2T>C rs577022490
NM_000497.4(CYP11B1):c.1398+4A>G rs1586557065
NM_000497.4(CYP11B1):c.1399-1G>C
NM_000497.4(CYP11B1):c.396-1G>A
NM_000497.4(CYP11B1):c.396-2A>G
NM_000497.4(CYP11B1):c.410G>A (p.Trp137Ter)
NM_000497.4(CYP11B1):c.425T>A (p.Leu142Ter) rs1479660166
NM_000497.4(CYP11B1):c.449C>A (p.Ser150Ter) rs142484434
NM_000497.4(CYP11B1):c.546_552del (p.Ser183fs) rs1816980417
NM_000497.4(CYP11B1):c.595+16G>T rs1365173817
NM_000497.4(CYP11B1):c.595+1G>C
NM_000497.4(CYP11B1):c.596-2A>G
NM_000497.4(CYP11B1):c.608_650del (p.Ala203fs)
NM_000497.4(CYP11B1):c.642_643del (p.His214fs) rs1369163428
NM_000497.4(CYP11B1):c.663_664del (p.Asn222fs)
NM_000497.4(CYP11B1):c.693_694delinsT (p.Lys232fs)
NM_000497.4(CYP11B1):c.694A>T (p.Lys232Ter)
NM_000497.4(CYP11B1):c.706C>T (p.Gln236Ter)
NM_000497.4(CYP11B1):c.712dup (p.Met238fs)
NM_000497.4(CYP11B1):c.715_731del (p.Phe239fs)
NM_000497.4(CYP11B1):c.726del (p.Ser243fs) rs1327055239
NM_000497.4(CYP11B1):c.751_752insC (p.Lys251fs)
NM_000497.4(CYP11B1):c.779G>A (p.Trp260Ter) rs1554652999
NM_000497.4(CYP11B1):c.793_794del (p.Gln265fs)
NM_000497.4(CYP11B1):c.798C>G (p.Tyr266Ter)
NM_000497.4(CYP11B1):c.799+1G>C rs1554652990
NM_000497.4(CYP11B1):c.799+2T>C rs193922541
NM_000497.4(CYP11B1):c.799G>C (p.Gly267Arg)
NM_000497.4(CYP11B1):c.811_812insAGAGGGAT (p.Ile271fs)
NM_000497.4(CYP11B1):c.814C>T (p.Gln272Ter)
NM_000497.4(CYP11B1):c.825T>G (p.Tyr275Ter) rs5290
NM_000497.4(CYP11B1):c.841_842insACAGTACACCA (p.Ser281fs) rs775128501
NM_000497.4(CYP11B1):c.850C>T (p.Gln284Ter) rs1816949224
NM_000497.4(CYP11B1):c.853_854insTACT (p.Gln285fs) rs2130273520
NM_000497.4(CYP11B1):c.907del (p.Ala303fs) rs769310764
NM_000497.4(CYP11B1):c.937del (p.Ala313fs)
NM_000497.4(CYP11B1):c.947dup (p.Asp317fs)
NM_000497.4(CYP11B1):c.950A>T (p.Asp317Val)
NM_000497.4(CYP11B1):c.953C>G (p.Thr318Arg) rs104894061
NM_000497.4(CYP11B1):c.954+1del
NM_000497.4(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.4(CYP11B1):c.954G>T (p.Thr318=)
NM_000497.4(CYP11B1):c.955-2A>G
NM_000497.4(CYP11B1):c.955-3C>A
NM_000497.4(CYP11B1):c.981_984del (p.Phe328fs)
NM_000497.4(CYP11B1):c.992C>T (p.Ala331Val) rs1326688256
NM_000497.4(CYP11B1):c.994C>T (p.Arg332Trp)

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