ClinVar Miner

List of variants reported as uncertain significance for adrenogenital syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157 0.00075
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) rs75429891 0.00042
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534 0.00023
NM_000500.9(CYP21A2):c.40G>T (p.Ala14Ser) rs764636694 0.00023
NM_001395413.1(POR):c.1208G>A (p.Arg403His) rs72557929 0.00016
NM_000102.4(CYP17A1):c.-15C>T rs140012815 0.00009
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr) rs140123041 0.00008
NM_000497.4(CYP11B1):c.1021C>A (p.Arg341Ser) rs372115638 0.00006
NM_000497.4(CYP11B1):c.541C>T (p.Arg181Trp) rs373856010 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_001395413.1(POR):c.1465G>A (p.Val489Met) rs377451454 0.00006
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His) rs376074317 0.00005
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666 0.00005
NM_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315 0.00005
NM_000497.4(CYP11B1):c.457G>A (p.Ala153Thr) rs200151403 0.00005
NM_000349.3(STAR):c.488A>T (p.Asp163Val) rs201579617 0.00004
NM_001395413.1(POR):c.311G>A (p.Arg104His) rs782776557 0.00004
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) rs566306310 0.00003
NM_000500.9(CYP21A2):c.738+75C>T rs1463196531 0.00003
NM_001395413.1(POR):c.205T>C (p.Phe69Leu) rs782107314 0.00003
NM_000198.4(HSD3B2):c.1084C>T (p.Arg362Trp) rs199919404 0.00002
NM_000349.3(STAR):c.731G>A (p.Ser244Asn) rs1331812230 0.00002
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp) rs370973897 0.00001
NM_000176.3(NR3C1):c.2309A>G (p.Lys770Arg) rs751136795 0.00001
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr) rs147383167 0.00001
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr) rs751047685 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met) rs931528592
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) rs202092158
NM_000349.3(STAR):c.157C>G (p.Arg53Gly) rs550388651
NM_000349.3(STAR):c.158G>C (p.Arg53Pro) rs529036391
NM_000497.4(CYP11B1):c.1015_1016delinsAT (p.Ala339Ile) rs193922535
NM_000497.4(CYP11B1):c.1205T>C (p.Leu402Ser) rs886062738
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His) rs754432887
NM_000497.4(CYP11B1):c.26T>C (p.Val9Ala) rs1554653718
NM_000497.4(CYP11B1):c.385G>A (p.Val129Met) rs377423817
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del) rs535861895
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp) rs202091168
NM_001395413.1(POR):c.1446_1447inv (p.Gly483Ser)
NM_001395413.1(POR):c.1577C>T (p.Thr526Met) rs782248163

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