ClinVar Miner

List of variants in gene combination CYP21A2, LOC106780800 reported as uncertain significance for congenital adrenal hyperplasia

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe) rs143240527 0.00204
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) rs144029176 0.00193
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157 0.00075
NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) rs776989258 0.00047
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser) rs764636694 0.00023
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys) rs758658540 0.00016
NM_000500.9(CYP21A2):c.371C>T (p.Thr124Ile) rs566065375 0.00011
NM_000500.9(CYP21A2):c.913G>A (p.Val305Met) rs151344505 0.00010
NM_000500.9(CYP21A2):c.939+5G>A rs557564791 0.00005
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) rs566306310 0.00003
NM_000500.9(CYP21A2):c.293-7C>G rs193922544 0.00003
NM_000500.9(CYP21A2):c.738+75C>T rs1463196531 0.00003
NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln) rs574370139 0.00001
NM_000500.9(CYP21A2):c.1405A>G (p.Ser469Gly) rs1436972952 0.00001
NM_000500.9(CYP21A2):c.293-131_293-129dup rs1219292422 0.00001
NM_000500.9(CYP21A2):c.373C>T (p.Arg125Cys) rs371412889 0.00001
NM_000500.9(CYP21A2):c.485A>G (p.Glu162Gly) rs1229809778 0.00001
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys) rs757608533 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000500.9(CYP21A2):c.919T>G (p.Phe307Val) rs746303150 0.00001
NM_000500.9(CYP21A2):c.104C>T (p.Pro35Leu)
NM_000500.9(CYP21A2):c.1064G>C (p.Arg355Pro) rs760216630
NM_000500.9(CYP21A2):c.1070G>C (p.Arg357Pro) rs574370139
NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro) rs2151875445
NM_000500.9(CYP21A2):c.1109G>C (p.Arg370Pro) rs376421504
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr) rs528524868
NM_000500.9(CYP21A2):c.1170A>T (p.Gln390His) rs1582311004
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1201A>G (p.Arg401Gly) rs1451687726
NM_000500.9(CYP21A2):c.1214T>C (p.Phe405Ser) rs2151876037
NM_000500.9(CYP21A2):c.1223-3C>G rs6460
NM_000500.9(CYP21A2):c.1298C>G (p.Pro433Arg) rs751456004
NM_000500.9(CYP21A2):c.1371C>A (p.Asp457Glu) rs1257180779
NM_000500.9(CYP21A2):c.137C>G (p.Pro46Arg) rs1240539721
NM_000500.9(CYP21A2):c.1447C>A (p.Pro483Thr) rs776989258
NM_000500.9(CYP21A2):c.1478A>G (p.Gln493Arg)
NM_000500.9(CYP21A2):c.268G>T (p.Ala90Ser) rs1185350916
NM_000500.9(CYP21A2):c.292+3A>G rs752771213
NM_000500.9(CYP21A2):c.293-100_293-99insG rs1582301904
NM_000500.9(CYP21A2):c.37C>A (p.Leu13Met)
NM_000500.9(CYP21A2):c.499C>G (p.Leu167Val) rs1582304416
NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg) rs1582304441
NM_000500.9(CYP21A2):c.503T>C (p.Leu168Pro)
NM_000500.9(CYP21A2):c.50G>T (p.Arg17Leu) rs1185695713
NM_000500.9(CYP21A2):c.540C>G (p.Asp180Glu) rs777946906
NM_000500.9(CYP21A2):c.60G>C (p.Trp20Cys)
NM_000500.9(CYP21A2):c.724C>G (p.Leu242Val) rs1582306855
NM_000500.9(CYP21A2):c.738+12_738+13inv
NM_000500.9(CYP21A2):c.738G>A (p.Lys246=) rs1441177352
NM_000500.9(CYP21A2):c.739-74G>A rs1582307366
NM_000500.9(CYP21A2):c.740del (p.Glu247fs) rs750499484
NM_000500.9(CYP21A2):c.803C>G (p.Pro268Arg)
NM_000500.9(CYP21A2):c.835G>A (p.Glu279Lys) rs2151874388
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser) rs570785206
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) rs267606756
NM_000500.9(CYP21A2):c.952C>T (p.Leu318=) rs1776217797

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