ClinVar Miner

List of variants studied for peripheral precocious puberty

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 90
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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.605+52del rs111834744 0.11909
NM_000233.4(LHCGR):c.*148T>C rs79248442 0.10655
NM_000233.4(LHCGR):c.*360G>A rs10495956 0.04668
NM_000233.4(LHCGR):c.*528T>C rs73928203 0.04337
NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser) rs12470652 0.03897
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 0.00306
NM_000233.4(LHCGR):c.458+3A>G rs76210637 0.00257
NM_000233.4(LHCGR):c.*535G>A rs534109670 0.00194
NM_000233.4(LHCGR):c.*22T>G rs192235905 0.00152
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052 0.00116
NM_000233.4(LHCGR):c.*577T>A rs542577446 0.00096
NM_000233.4(LHCGR):c.1953T>C (p.Tyr651=) rs61996315 0.00075
NM_000233.4(LHCGR):c.371G>A (p.Arg124Gln) rs140788691 0.00041
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.*7C>T rs200256443 0.00029
NM_000233.4(LHCGR):c.561A>G (p.Glu187=) rs369601921 0.00028
NM_000233.4(LHCGR):c.*300T>A rs771456886 0.00016
NM_000233.4(LHCGR):c.672G>A (p.Pro224=) rs267599401 0.00016
NM_000233.4(LHCGR):c.*553A>T rs753509070 0.00015
NM_000233.4(LHCGR):c.54G>A (p.Gln18=) rs780848944 0.00014
NM_000233.4(LHCGR):c.707C>T (p.Ala236Val) rs140148170 0.00014
NM_000233.4(LHCGR):c.*724T>C rs886056145 0.00009
NM_000233.4(LHCGR):c.*383C>A rs777978092 0.00006
NM_000233.4(LHCGR):c.383+2T>C rs200639521 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.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.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.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.*182T>C rs1266628357
NM_000233.4(LHCGR):c.*273T>C rs886056146
NM_000233.4(LHCGR):c.*281del rs558291070
NM_000233.4(LHCGR):c.*414T>C rs1679939498
NM_000233.4(LHCGR):c.*443C>T rs886110093
NM_000233.4(LHCGR):c.*512C>T rs564632841
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.1103T>C (p.Leu368Pro) rs121912533
NM_000233.4(LHCGR):c.1118C>T (p.Ala373Val) rs121912528
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr) rs121912526
NM_000233.4(LHCGR):c.1308G>A (p.Gly436=) rs781308880
NM_000233.4(LHCGR):c.1370T>G (p.Leu457Arg) rs121912535
NM_000233.4(LHCGR):c.1573C>T (p.Gln525Ter) rs1680005340
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.1703C>T (p.Ala568Val) rs121912534
NM_000233.4(LHCGR):c.1713G>A (p.Met571Ile) rs121912519
NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val) rs121912522
NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile) rs121912521
NM_000233.4(LHCGR):c.1732G>A (p.Asp578Asn)
NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr) rs121912532
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000233.4(LHCGR):c.1764dup (p.Ala589fs)
NM_000233.4(LHCGR):c.1786del (p.Val596fs)
NM_000233.4(LHCGR):c.26_43dup (p.Leu14_Leu15insGlnLeuLeuLysLeuLeu) rs1164921895
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.378A>C (p.Lys126Asn) rs373456950
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln) rs71245621
NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr) rs886056147
NM_000233.4(LHCGR):c.866+1G>C
NM_000233.4(LHCGR):c.947+4_947+7del rs1572817589
NM_001166114.2(PNPLA6):c.46A>T (p.Lys16Ter) rs2146036792
NM_001291415.2(KDM6A):c.139G>A (p.Glu47Lys) rs2146444183
NM_001378964.1(CDON):c.1109T>C (p.Val370Ala) rs1947430952
NM_002303.6(LEPR):c.2728C>T (p.Pro910Ser) rs2101046855
NM_003611.3(OFD1):c.950A>G (p.Gln317Arg) rs2146992262
NM_003611.3(OFD1):c.951G>T (p.Gln317His) rs2047489418

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