ClinVar Miner

List of variants in gene combination LHCGR, STON1-GTF2A1L reported by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000233.4(LHCGR):c.866+8G>A rs6755901 0.81104
NM_000233.4(LHCGR):c.1065T>C (p.Asp355=) rs11125179 0.51451
NM_000233.4(LHCGR):c.935A>G (p.Asn312Ser) rs2293275 0.51043
NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser) rs12470652 0.03749
NM_000233.4(LHCGR):c.610C>T (p.Leu204=) rs61996322 0.01070
NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser) rs61996314 0.00677
NM_000233.4(LHCGR):c.622G>A (p.Val208Ile) rs61996321 0.00614
NM_000233.4(LHCGR):c.606-5C>T rs78135094 0.00283
NM_000233.4(LHCGR):c.458+3A>G rs76210637 0.00251
NM_000233.4(LHCGR):c.568C>A (p.Gln190Lys) rs61996318 0.00163
NM_000233.4(LHCGR):c.458+17T>C rs180853612 0.00131
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052 0.00116
NM_000233.4(LHCGR):c.1113T>C (p.Ile371=) rs115267374 0.00099
NM_000233.4(LHCGR):c.1869T>C (p.Tyr623=) rs144859947 0.00076
NM_000233.4(LHCGR):c.1953T>C (p.Tyr651=) rs61996315 0.00070
NM_000233.4(LHCGR):c.371G>A (p.Arg124Gln) rs140788691 0.00036
NM_000233.4(LHCGR):c.430G>A (p.Val144Ile) rs121912539 0.00035
NM_000233.4(LHCGR):c.161+9A>G rs573699597 0.00031
NM_000233.4(LHCGR):c.1916G>A (p.Ser639Asn) rs149766676 0.00027
NM_000233.4(LHCGR):c.561A>G (p.Glu187=) rs369601921 0.00027
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=) rs143697410 0.00024
NM_000233.4(LHCGR):c.426G>A (p.Thr142=) rs142554296 0.00019
NM_000233.4(LHCGR):c.707C>T (p.Ala236Val) rs140148170 0.00017
NM_000233.4(LHCGR):c.672G>A (p.Pro224=) rs267599401 0.00015
NM_000233.4(LHCGR):c.1510G>A (p.Gly504Ser) rs377391010 0.00012
NM_000233.4(LHCGR):c.1224G>A (p.Met408Ile) rs138309348 0.00009
NM_000233.4(LHCGR):c.309-17T>C rs549649504 0.00009
NM_000233.4(LHCGR):c.1169A>G (p.Lys390Arg) rs549696399 0.00008
NM_000233.4(LHCGR):c.680+9A>G rs766301939 0.00008
NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) rs146785679 0.00005
NM_000233.4(LHCGR):c.1847C>A (p.Ser616Tyr) rs121912525 0.00005
NM_000233.4(LHCGR):c.1875A>T (p.Ile625=) rs200691173 0.00005
NM_000233.4(LHCGR):c.671C>T (p.Pro224Leu) rs758584973 0.00005
NM_000233.4(LHCGR):c.590C>T (p.Thr197Met) rs767900216 0.00004
NM_000233.4(LHCGR):c.1097T>C (p.Ile366Thr) rs994667830 0.00003
NM_000233.4(LHCGR):c.1345G>A (p.Ala449Thr) rs763889232 0.00003
NM_000233.4(LHCGR):c.161+8C>T rs544275678 0.00003
NM_000233.4(LHCGR):c.207C>T (p.Phe69=) rs911406588 0.00003
NM_000233.4(LHCGR):c.1526T>C (p.Met509Thr) rs184344702 0.00002
NM_000233.4(LHCGR):c.1936C>T (p.Arg646Cys) rs201964457 0.00002
NM_000233.4(LHCGR):c.1971A>G (p.Ser657=) rs764444931 0.00002
NM_000233.4(LHCGR):c.233+14T>C rs758708866 0.00002
NM_000233.4(LHCGR):c.628C>T (p.Leu210=) rs368171908 0.00002
NM_000233.4(LHCGR):c.1095G>T (p.Leu365=) rs74447072 0.00001
NM_000233.4(LHCGR):c.1178T>G (p.Val393Gly) rs1394300572 0.00001
NM_000233.4(LHCGR):c.1202T>C (p.Leu401Pro) rs1463882026 0.00001
NM_000233.4(LHCGR):c.1374C>T (p.Thr458=) rs776179025 0.00001
NM_000233.4(LHCGR):c.1435C>T (p.Arg479Ter) rs757225917 0.00001
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter) rs121912523 0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) rs121912524 0.00001
NM_000233.4(LHCGR):c.1868A>C (p.Tyr623Ser) rs1431751529 0.00001
NM_000233.4(LHCGR):c.264G>A (p.Arg88=) rs141473843 0.00001
NM_000233.4(LHCGR):c.309-20T>G rs1300001270 0.00001
NM_000233.4(LHCGR):c.458+7A>T rs186129492 0.00001
NM_000233.4(LHCGR):c.459-12T>C rs1041840428 0.00001
NM_000233.4(LHCGR):c.1031C>A (p.Ala344Asp) rs370010927
NM_000233.4(LHCGR):c.1071G>A (p.Met357Ile)
NM_000233.4(LHCGR):c.1090G>T (p.Val364Phe)
NM_000233.4(LHCGR):c.1095G>A (p.Leu365=) rs74447072
NM_000233.4(LHCGR):c.1111_1112dup (p.Leu372fs)
NM_000233.4(LHCGR):c.111G>A (p.Val37=)
NM_000233.4(LHCGR):c.114C>G (p.Pro38=) rs74469055
NM_000233.4(LHCGR):c.1590C>A (p.Thr530=) rs1331743516
NM_000233.4(LHCGR):c.1624A>C (p.Ile542Leu) rs121912531
NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly) rs121912540
NM_000233.4(LHCGR):c.1691A>T (p.Asp564Val) rs121912540
NM_000233.4(LHCGR):c.1713G>T (p.Met571Ile) rs121912519
NM_000233.4(LHCGR):c.1733A>C (p.Asp578Ala) rs121912518
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000233.4(LHCGR):c.17C>T (p.Ser6Leu) rs1558913953
NM_000233.4(LHCGR):c.1805C>T (p.Thr602Ile) rs756089036
NM_000233.4(LHCGR):c.187G>C (p.Val63Leu)
NM_000233.4(LHCGR):c.1985A>G (p.Asn662Ser)
NM_000233.4(LHCGR):c.211G>C (p.Gly71Arg)
NM_000233.4(LHCGR):c.220G>T (p.Glu74Ter)
NM_000233.4(LHCGR):c.249T>G (p.Ile83Met) rs2529875013
NM_000233.4(LHCGR):c.26_43dup (p.Leu14_Leu15insGlnLeuLeuLysLeuLeu) rs1164921895
NM_000233.4(LHCGR):c.308+11G>A
NM_000233.4(LHCGR):c.320A>T (p.Asn107Ile)
NM_000233.4(LHCGR):c.32_58dup (p.Pro19_Pro20insLeuLysLeuLeuLeuLeuLeuGlnPro) rs1558913707
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) rs140691492
NM_000233.4(LHCGR):c.34_51del (p.Lys12_Leu17del) rs1259843020
NM_000233.4(LHCGR):c.383+15T>C rs1186300707
NM_000233.4(LHCGR):c.38TGC[6] (p.Leu17_Gln18insLeu) rs1553401008
NM_000233.4(LHCGR):c.469G>A (p.Asp157Asn) rs772004562
NM_000233.4(LHCGR):c.491T>C (p.Ile164Thr) rs911548844
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln) rs71245621
NM_000233.4(LHCGR):c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) rs71245621
NM_000233.4(LHCGR):c.562G>T (p.Glu188Ter) rs2529810344
NM_000233.4(LHCGR):c.605+9T>G rs1572851553
NM_000233.4(LHCGR):c.619A>C (p.Asn207His)
NM_000233.4(LHCGR):c.625C>T (p.His209Tyr) rs1667845766
NM_000233.4(LHCGR):c.650C>A (p.Ala217Asp)
NM_000233.4(LHCGR):c.681-16C>T
NM_000233.4(LHCGR):c.757T>A (p.Ser253Thr)
NM_000233.4(LHCGR):c.832C>T (p.His278Tyr) rs2529745088
NM_000233.4(LHCGR):c.978G>C (p.Leu326=)

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