List of variants in gene combination CYP11B1, LOC106799833 reported as uncertain significance for adrenal gland hyperfunction

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.1015G>A (p.Ala339Thr)	rs193922534	0.00023
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_000497.4(CYP11B1):c.457G>A (p.Ala153Thr)	rs200151403	0.00005
NM_000497.4(CYP11B1):c.957G>A (p.Thr319=)	rs762599130	0.00004
NM_000497.4(CYP11B1):c.595+14G>A	rs1208266252	0.00003
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)	rs193922540	0.00001
NM_000497.4(CYP11B1):c.802G>A (p.Asp268Asn)	rs748180875	0.00001
NM_000497.4(CYP11B1):c.835G>A (p.Ala279Thr)	rs751047685	0.00001
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.1399-14G>A	rs5295
NM_000497.4(CYP11B1):c.450G>A (p.Ser150=)	rs778556211
NM_000497.4(CYP11B1):c.517AAG[2] (p.Lys175del)	rs535861895
NM_000497.4(CYP11B1):c.632T>C (p.Leu211Pro)	rs368125568
NM_000497.4(CYP11B1):c.746G>A (p.Ser249Asn)	rs1816964007
NM_000497.4(CYP11B1):c.748C>T (p.Pro250Ser)	rs753471858
NM_000497.4(CYP11B1):c.766C>T (p.His256Tyr)	rs1816963218
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)	rs202091168
NM_000497.4(CYP11B1):c.912C>G (p.Ile304Met)	rs751843934

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