ClinVar Miner

List of variants in gene combination CYP11B1, LOC106799833 reported as likely benign for adrenocortical insufficiency

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.01939
NM_000497.4(CYP11B1):c.1122-20A>G rs61752794 0.01636
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) rs5316 0.01232
NM_000497.4(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645 0.01064
NM_000497.4(CYP11B1):c.988C>T (p.Leu330=) rs61752765 0.00216
NM_000497.4(CYP11B1):c.1399-23T>G rs143119372 0.00180
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) rs61751149 0.00112
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) rs61751150 0.00079
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_000497.4(CYP11B1):c.930A>G (p.Glu310=) rs148707144 0.00029
NM_000497.4(CYP11B1):c.395+10G>A rs768465089 0.00013
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000497.4(CYP11B1):c.1440C>T (p.Asp480=) rs576292844 0.00005
NM_000497.4(CYP11B1):c.561C>T (p.Asp187=) rs772530391 0.00004
NM_000497.4(CYP11B1):c.537C>T (p.Asn179=) rs779461311 0.00003
NM_000497.4(CYP11B1):c.945C>T (p.Ser315=) rs372647044 0.00003
NM_000497.4(CYP11B1):c.1038C>T (p.Ala346=) rs776234575 0.00002
NM_000497.4(CYP11B1):c.1227T>G (p.Ser409=) rs765770519 0.00002
NM_000497.4(CYP11B1):c.1398+6C>G rs776284924 0.00002
NM_000497.4(CYP11B1):c.1389G>C (p.Leu463=) rs775013399 0.00001
NM_000497.4(CYP11B1):c.396-9C>T rs1324660372 0.00001
NM_000497.4(CYP11B1):c.596-8C>T rs1201914437 0.00001
NM_000497.4(CYP11B1):c.627G>T (p.Leu209=) rs1377203108 0.00001
NM_000497.4(CYP11B1):c.948G>C (p.Val316=) rs778295450 0.00001
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.1266C>T (p.Arg422=) rs4998902
NM_000497.4(CYP11B1):c.645C>T (p.Ser215=) rs199525592
NM_000497.4(CYP11B1):c.888T>G (p.Asn296Lys)

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