ClinVar Miner

List of variants reported as uncertain significance for precocious puberty

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000233.4(LHCGR):c.605+52del rs111834744 0.11909
NM_000233.4(LHCGR):c.*577T>A rs542577446 0.00096
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.54G>A (p.Gln18=) rs780848944 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.*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.2072T>C (p.Leu691Pro) rs1387925619 0.00001
NM_000233.4(LHCGR):c.384-15T>C rs753540458 0.00001
NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser) rs61735615 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.*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.1308G>A (p.Gly436=) rs781308880
NM_000233.4(LHCGR):c.26_43dup (p.Leu14_Leu15insGlnLeuLeuLysLeuLeu) rs1164921895
NM_000233.4(LHCGR):c.348C>T (p.Pro116=) rs746963214
NM_000233.4(LHCGR):c.811G>A (p.Ala271Thr) rs886056147
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
NM_003836.7(DLK1):c.67+78C>T
NM_005428.4(VAV1):c.909del (p.Asp303fs)
NM_005664.4(MKRN3):c.-81C>T
NM_005664.4(MKRN3):c.103T>G (p.Cys35Gly) rs1889074129
NM_005664.4(MKRN3):c.1252dup (p.Tyr418fs)

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