ClinVar Miner

List of variants reported as likely benign for Leydig cell hypoplasia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000233.4(LHCGR):c.610C>T (p.Leu204=) rs61996322 0.01070
NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser) rs61996314 0.00677
NM_000233.4(LHCGR):c.458+3A>G rs76210637 0.00257
NM_000233.4(LHCGR):c.*535G>A rs534109670 0.00194
NM_000233.4(LHCGR):c.*22T>G rs192235905 0.00152
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.1669G>A (p.Glu557Lys) rs146785679 0.00005
NM_000233.4(LHCGR):c.1875A>T (p.Ile625=) rs200691173 0.00005
NM_000233.4(LHCGR):c.81G>A (p.Glu27=) rs527550554 0.00002
NM_000233.4(LHCGR):c.*281del rs558291070
NM_000233.4(LHCGR):c.378A>C (p.Lys126Asn) rs373456950

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