List of variants reported as uncertain significance for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Institute of Human Genetics, Medical University Innsbruck

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000500.9(CYP21A2):c.738+75C>T	rs1463196531	0.00003
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.485A>G (p.Glu162Gly)	rs1229809778	0.00001
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.1201A>G (p.Arg401Gly)	rs1451687726
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.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.499C>G (p.Leu167Val)	rs1582304416
NM_000500.9(CYP21A2):c.500T>G (p.Leu167Arg)	rs1582304441
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.724C>G (p.Leu242Val)	rs1582306855
NM_000500.9(CYP21A2):c.739-74G>A	rs1582307366
NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser)	rs570785206

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