ClinVar Miner

List of variants in gene ACBD6, LHX4 studied for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_033343.4(LHX4):c.983A>G (p.Asn328Ser) rs7536561 0.40777
NM_033343.4(LHX4):c.778+14G>T rs3806302 0.09243
NM_033343.4(LHX4):c.452-5T>C rs2764449 0.05703
NM_033343.4(LHX4):c.*97T>G rs145063714 0.01162
NM_033343.4(LHX4):c.*286G>C rs80203153 0.00865
NM_033343.4(LHX4):c.*130C>T rs59623342 0.00680
NM_033343.4(LHX4):c.*445G>T rs57069480 0.00607
NM_033343.4(LHX4):c.690C>T (p.Ser230=) rs111822893 0.00359
NM_033343.4(LHX4):c.*289G>A rs74970014 0.00180
NM_033343.4(LHX4):c.924T>C (p.Tyr308=) rs146655496 0.00159
NM_033343.4(LHX4):c.*119T>C rs180725260 0.00142
NM_033343.4(LHX4):c.1052C>T (p.Thr351Met) rs200119009 0.00019
NM_033343.4(LHX4):c.849A>C (p.Gly283=) rs373879455 0.00016
NM_033343.4(LHX4):c.*28C>A rs75471724 0.00012
NM_033343.4(LHX4):c.776G>A (p.Arg259Gln) rs375216188 0.00010
NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr) rs372952844 0.00009
NM_033343.4(LHX4):c.774C>T (p.Phe258=) rs565803862 0.00007
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) rs145433128 0.00006
NM_033343.4(LHX4):c.*154A>G rs747210761 0.00004
NM_033343.4(LHX4):c.*91C>T rs555728017 0.00003
NM_033343.4(LHX4):c.704G>A (p.Arg235Gln) rs765008063 0.00003
NM_033343.4(LHX4):c.998C>T (p.Thr333Met) rs780869144 0.00003
NM_033343.4(LHX4):c.1007G>A (p.Ser336Asn) rs201612374 0.00001
NM_033343.4(LHX4):c.1160A>C (p.His387Pro) rs200187045 0.00001
NM_033343.4(LHX4):c.452-2A>C rs786204780 0.00001
NM_033343.4(LHX4):c.740A>T (p.Glu247Val) rs766381404 0.00001
NM_033343.4(LHX4):c.775C>G (p.Arg259Gly) rs747140246 0.00001
NM_033343.4(LHX4):c.*17C>A rs116482990
NM_033343.4(LHX4):c.*17C>T rs116482990
NM_033343.4(LHX4):c.*221G>T rs1648926689
NM_033343.4(LHX4):c.*26C>T rs138054044
NM_033343.4(LHX4):c.*280T>C rs1648929835
NM_033343.4(LHX4):c.*460G>C rs988330056
NM_033343.4(LHX4):c.*8T>C rs1320121590
NM_033343.4(LHX4):c.1070G>A (p.Gly357Glu)
NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe)
NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr) rs121912644
NM_033343.4(LHX4):c.464C>T (p.Ala155Val) rs746041842
NM_033343.4(LHX4):c.486C>A (p.Thr162=) rs183432227
NM_033343.4(LHX4):c.569T>C (p.Leu190Pro)
NM_033343.4(LHX4):c.569T>G (p.Leu190Arg) rs121912643
NM_033343.4(LHX4):c.602T>C (p.Val201Ala) rs1648658489
NM_033343.4(LHX4):c.607-1G>C rs748268631
NM_033343.4(LHX4):c.608T>G (p.Val203Gly) rs201275928
NM_033343.4(LHX4):c.621C>G (p.Asn207Lys) rs2149266749
NM_033343.4(LHX4):c.628G>C (p.Ala210Pro) rs121912641
NM_033343.4(LHX4):c.743A>T (p.Asp248Val)
NM_033343.4(LHX4):c.822T>A (p.Tyr274Ter)

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