ClinVar Miner

List of variants in gene combination CYP11B1, LOC106799833 reported as benign for adrenal cortex disorder

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000497.4(CYP11B1):c.800-45C>T rs7822986 0.59689
NM_000497.4(CYP11B1):c.596-41C>T rs113759408 0.14096
NM_000497.4(CYP11B1):c.*132T>C rs5297 0.13529
NM_000497.4(CYP11B1):c.1399-14G>C rs5295 0.12635
NM_000497.4(CYP11B1):c.873G>A (p.Ala291=) rs34570566 0.08763
NM_000497.4(CYP11B1):c.800-14C>T rs4535 0.05537
NM_000497.4(CYP11B1):c.1157C>T (p.Ala386Val) rs4541 0.04552
NM_000497.4(CYP11B1):c.1086G>C (p.Leu362=) rs6403 0.03563
NM_000497.4(CYP11B1):c.1098T>G (p.Arg366=) rs61752769 0.02016
NM_000497.4(CYP11B1):c.1353T>C (p.Leu451=) rs5316 0.01232
NM_000497.4(CYP11B1):c.825T>C (p.Tyr275=) rs5290 0.00338
NM_000497.4(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766 0.00248
NM_000497.4(CYP11B1):c.823T>C (p.Tyr275His) rs141368413 0.00177
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=) rs151335623 0.00158
NM_000497.4(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407 0.00044
NM_000497.4(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201 0.00035
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_000497.4(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238 0.00009
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000497.4(CYP11B1):c.736C>T (p.Arg246Cys) rs777913851 0.00004
NM_000497.4(CYP11B1):c.1200+11C>T rs753651666 0.00001
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.4(CYP11B1):c.542G>C (p.Arg181Pro) rs146105017
NM_000497.4(CYP11B1):c.595+12G>A rs6387
NM_000497.4(CYP11B1):c.799+17G>A rs61751156

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