ClinVar Miner

List of variants studied for Leydig cell agenesis

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Total variants: 87
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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.*221G>C rs62137532 0.19256
NM_000233.3(LHCGR):c.-58G>T rs10176989 0.18447
NM_000233.4(LHCGR):c.*148T>C rs79248442 0.10655
NM_000233.4(LHCGR):c.*528T>C rs73928203 0.04337
NM_000233.4(LHCGR):c.*360G>A rs10495956 0.04324
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.*131C>T rs73928204 0.00766
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.*535G>A rs534109670 0.00191
NM_000233.4(LHCGR):c.*22T>G rs192235905 0.00139
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052 0.00116
NM_000233.4(LHCGR):c.*577T>A rs542577446 0.00098
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.*512C>T rs564632841 0.00033
NM_000233.4(LHCGR):c.161+9A>G rs573699597 0.00031
NM_000233.4(LHCGR):c.561A>G (p.Glu187=) rs369601921 0.00027
NM_000233.4(LHCGR):c.*7C>T rs200256443 0.00026
NM_000233.4(LHCGR):c.707C>T (p.Ala236Val) rs140148170 0.00017
NM_000233.4(LHCGR):c.*300T>A rs771456886 0.00016
NM_000233.4(LHCGR):c.*553A>T rs753509070 0.00015
NM_000233.4(LHCGR):c.378A>C (p.Lys126Asn) rs373456950 0.00015
NM_000233.4(LHCGR):c.672G>A (p.Pro224=) rs267599401 0.00015
NM_000233.4(LHCGR):c.54G>A (p.Gln18=) rs780848944 0.00013
NM_000233.4(LHCGR):c.*724T>C rs886056145 0.00008
NM_000233.4(LHCGR):c.*383C>A rs777978092 0.00006
NM_000233.4(LHCGR):c.681-6G>A rs575168674 0.00006
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.1752T>C (p.Pro584=) rs377665383 0.00003
NM_000233.4(LHCGR):c.2002A>C (p.Thr668Pro) rs199807908 0.00003
NM_000233.4(LHCGR):c.*192T>C rs1268210330 0.00002
NM_000233.4(LHCGR):c.81G>A (p.Glu27=) rs527550554 0.00002
NM_000233.4(LHCGR):c.*414T>C rs1679939498 0.00001
NM_000233.4(LHCGR):c.*443C>T rs886110093 0.00001
NM_000233.4(LHCGR):c.132C>T (p.Cys44=) rs1209400793 0.00001
NM_000233.4(LHCGR):c.1375G>A (p.Val459Ile) rs200275286 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.1864C>A (p.Leu622Met) rs1325590280 0.00001
NM_000233.4(LHCGR):c.2072T>C (p.Leu691Pro) rs1387925619 0.00001
NM_000233.4(LHCGR):c.2091A>T (p.Thr697=) rs148244033 0.00001
NM_000233.4(LHCGR):c.2095T>A (p.Cys699Ser) rs778585416 0.00001
NM_000233.4(LHCGR):c.384-15T>C rs753540458 0.00001
NM_000233.4(LHCGR):c.442G>T (p.Glu148Ter) rs140568136 0.00001
NM_000233.4(LHCGR):c.*182T>C rs1266628357
NM_000233.4(LHCGR):c.*273T>C rs886056146
NM_000233.4(LHCGR):c.*281del rs558291070
NM_000233.4(LHCGR):c.*710A>G rs1679924403
NM_000233.4(LHCGR):c.*747C>A rs894998962
NM_000233.4(LHCGR):c.*805A>G rs1186633571
NM_000233.4(LHCGR):c.*894G>T rs1572798605
NM_000233.4(LHCGR):c.-32C>G rs1670183266
NM_000233.4(LHCGR):c.1027T>A (p.Cys343Ser) rs121912536
NM_000233.4(LHCGR):c.1060G>A (p.Glu354Lys) rs121912529
NM_000233.4(LHCGR):c.118G>T (p.Gly40Cys) rs1670170321
NM_000233.4(LHCGR):c.1308G>A (p.Gly436=) rs781308880
NM_000233.4(LHCGR):c.1505T>C (p.Leu502Pro) rs121912538
NM_000233.4(LHCGR):c.1627T>C (p.Cys543Arg) rs121912537
NM_000233.4(LHCGR):c.1777G>C (p.Ala593Pro) rs121912520
NM_000233.4(LHCGR):c.1824_1829del (p.Val609_Leu610del) rs2104352652
NM_000233.4(LHCGR):c.1869T>G (p.Tyr623Ter) rs144859947
NM_000233.4(LHCGR):c.233+1G>A rs1572874955
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) rs140691492
NM_000233.4(LHCGR):c.348C>T (p.Pro116=) rs746963214
NM_000233.4(LHCGR):c.353C>T (p.Ala118Val) rs200591881
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) rs773279269
NM_000233.4(LHCGR):c.430G>T (p.Val144Phe) rs121912539
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln) rs71245621
NM_000233.4(LHCGR):c.536+3G>C rs2104451655
NM_000233.4(LHCGR):c.537-1G>T rs1668121333
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.589A>C (p.Thr197Pro) rs2529810233
NM_000233.4(LHCGR):c.709del (p.Leu237fs) rs1553387851
NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr) rs886056147
NM_000233.4(LHCGR):c.947+4_947+7del rs1572817589
NM_000233.4(LHCGR):c.993T>A (p.Tyr331Ter) rs1680042817

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