ClinVar Miner

List of variants reported as 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: 13
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HGVS dbSNP gnomAD frequency
NM_000233.4(LHCGR):c.866+8G>A rs6755901 0.81104
NM_000233.4(LHCGR):c.1065T>C (p.Asp355=) rs11125179 0.51451
NM_000233.4(LHCGR):c.935A>G (p.Asn312Ser) rs2293275 0.51043
NM_000233.4(LHCGR):c.*221G>C rs62137532 0.19256
NM_001198593.2(STON1-GTF2A1L):c.3442-20551C>A rs10176989 0.18447
NM_000233.4(LHCGR):c.*148T>C rs79248442 0.10655
NM_000233.4(LHCGR):c.*360G>A rs10495956 0.04668
NM_000233.4(LHCGR):c.*528T>C rs73928203 0.04337
NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser) rs12470652 0.03897
NM_000233.4(LHCGR):c.*131C>T rs73928204 0.00766
NM_000233.4(LHCGR):c.622G>A (p.Val208Ile) rs61996321 0.00614
NM_000233.4(LHCGR):c.606-5C>T rs78135094 0.00306
NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup) rs71245621

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