ClinVar Miner

List of variants studied for Cushing syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_000244.3(MEN1):c.1028dup (p.Gln344fs) rs386134245
NM_000244.3(MEN1):c.1064+9C>T rs200517349
NM_000244.3(MEN1):c.1078del (p.Arg360fs) rs386134246
NM_000244.3(MEN1):c.1189dup (p.Glu397fs) rs386134247
NM_000244.3(MEN1):c.1267G>A (p.Asp423Asn) rs104894264
NM_000244.3(MEN1):c.1277G>A (p.Cys426Tyr) rs386134249
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000244.3(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_000244.3(MEN1):c.249G>A (p.Leu83=) rs386134252
NM_000244.3(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_000244.3(MEN1):c.417C>G (p.His139Gln) rs386134254
NM_000244.3(MEN1):c.480_481insAATT (p.Gly161fs) rs386134255
NM_000244.3(MEN1):c.507C>T (p.Ala169=) rs146759807
NM_000244.3(MEN1):c.518T>C (p.Leu173Pro) rs386134256
NM_000244.3(MEN1):c.664_669+2delGAGCGGGT rs386134258
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000244.3(MEN1):c.773C>A (p.Ser258Ter) rs386134259
NM_000244.3(MEN1):c.951C>G (p.Tyr317Ter) rs386134260
NM_000244.3(MEN1):c.970dup (p.Tyr324fs) rs386134261
NM_000546.5(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.782+1G>T rs1555525429
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007

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