ClinVar Miner

List of variants in gene combination ACBD6, LHX4 reported as benign for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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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.*119T>C rs180725260 0.00142
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) rs145433128 0.00006
NM_033343.4(LHX4):c.1160A>C (p.His387Pro) rs200187045 0.00001
NM_033343.4(LHX4):c.*17C>A rs116482990

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