ClinVar Miner

List of variants in gene combination LHCGR, STON1-GTF2A1L reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000233.4(LHCGR):c.383+114G>C rs6545063 0.98894
NM_000233.4(LHCGR):c.383+191C>T rs6545062 0.98893
NM_000233.4(LHCGR):c.681-243C>G rs2037614 0.97917
NM_000233.4(LHCGR):c.680+238= rs6733079 0.82758
NM_000233.4(LHCGR):c.866+8G>A rs6755901 0.81104
NM_000233.4(LHCGR):c.537-235G>A rs4953616 0.69607
NM_000233.4(LHCGR):c.383+241G>A rs6545061 0.59602
NM_000233.4(LHCGR):c.234-65A>T rs11892719 0.59027
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.234-146T>C rs11897846 0.37220
NM_000233.4(LHCGR):c.234-109G>A rs11887058 0.36814
NM_000233.4(LHCGR):c.536+1888T>G rs68073206 0.33911
NM_000233.4(LHCGR):c.161+165A>G rs4073367 0.29525
NM_000233.4(LHCGR):c.162-189T>C rs7588339 0.20447
NM_000233.4(LHCGR):c.162-210G>A rs7561945 0.19896
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.680+238G>C rs6733079 0.17242
NM_000233.4(LHCGR):c.161+292C>T rs4073368 0.16056
NM_000233.4(LHCGR):c.161+28G>C rs4073366 0.16027
NM_000233.4(LHCGR):c.162-158T>C rs4597581 0.15570
NM_000233.4(LHCGR):c.383+166C>T rs62135399 0.13839
NM_000233.4(LHCGR):c.606-298T>C rs62135390 0.12447
NM_000233.4(LHCGR):c.605+52del rs111834744 0.11909
NM_000233.4(LHCGR):c.680+81C>T rs73928211 0.11339
NM_000233.4(LHCGR):c.*148T>C rs79248442 0.10655
NM_000233.4(LHCGR):c.680+157A>G rs34594563 0.09836
NM_000233.4(LHCGR):c.866+63G>C rs11675952 0.07432
NM_000233.4(LHCGR):c.948-113G>A rs7589348 0.04618
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.234-51G>A rs6759468 0.04011
NC_000002.12:g.48756083T>G rs12994872 0.03777
NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser) rs12470652 0.03749
NM_000233.4(LHCGR):c.233+75A>T rs112078810 0.02679
NM_000233.4(LHCGR):c.866+25C>T rs147917820 0.01273
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.605+46T>C rs140302213 0.00754
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.309-55T>C rs143404304 0.00531
NM_000233.4(LHCGR):c.606-5C>T rs78135094 0.00283
NM_000233.4(LHCGR):c.867-176A>C rs113455986 0.00272
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.1360G>A (p.Val454Ile) rs114320052 0.00116
NM_000233.4(LHCGR):c.430G>A (p.Val144Ile) rs121912539 0.00035
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.1169A>G (p.Lys390Arg) rs549696399 0.00008
NM_000233.4(LHCGR):c.383+2T>C rs200639521 0.00006
NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) rs146785679 0.00005
NM_000233.4(LHCGR):c.746T>C (p.Ile249Thr) rs749078142 0.00003
NM_000233.4(LHCGR):c.866A>G (p.Glu289Gly) rs138280987 0.00001
NM_000233.4(LHCGR):c.*53dup rs200887026
NM_000233.4(LHCGR):c.1057T>C (p.Cys353Arg) rs1261577764
NM_000233.4(LHCGR):c.1150C>A (p.Leu384Ile) rs2104356754
NM_000233.4(LHCGR):c.1471T>C (p.Trp491Arg) rs1064796476
NM_000233.4(LHCGR):c.162-250C>A rs7562215
NM_000233.4(LHCGR):c.1730C>T (p.Thr577Ile) rs121912521
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) rs121912518
NM_000233.4(LHCGR):c.2084G>A (p.Arg695His)
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) rs140691492
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter) rs773279269
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln) rs71245621
NM_000233.4(LHCGR):c.517A>T (p.Asn173Tyr) rs1064796475
NM_000233.4(LHCGR):c.536+3G>C rs2104451655
NM_000233.4(LHCGR):c.606-268G>A rs111338389
NM_000233.4(LHCGR):c.681-193A>G rs13028542
NM_000233.4(LHCGR):c.681-48del rs70946824
NM_000233.4(LHCGR):c.947+201dup rs35306306

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