ClinVar Miner

List of variants reported as pathogenic for adenoma by OMIM

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_004897.5(MINPP1):c.933+34T>A rs41299159 0.12000
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194 0.00002
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195 0.00001
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026 0.00001
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344 0.00001
NC_012920.1:m.14248dupC rs869312882
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs) rs387906234
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) rs387906234
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000516.7(GNAS):c.681G>C (p.Gln227His) rs137854533
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_001370259.2(MEN1):c.1654A>T (p.Thr552Ser) rs121913035
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp) rs73637412

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