ClinVar Miner

List of variants in gene combination LHCGR, STON1-GTF2A1L reported as uncertain significance for Leydig cell hypoplasia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
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.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 0.00010
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.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.132C>T (p.Cys44=) rs1209400793 0.00001
NM_000233.4(LHCGR):c.1375G>A (p.Val459Ile) rs200275286 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.*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.118G>T (p.Gly40Cys)
NM_000233.4(LHCGR):c.1308G>A (p.Gly436=) rs781308880
NM_000233.4(LHCGR):c.1864C>A (p.Leu622Met)
NM_000233.4(LHCGR):c.26_43dup (p.Gln9_Leu14dup) 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.353C>T (p.Ala118Val) rs200591881
NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr) rs886056147

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