ClinVar Miner

List of variants studied for Kallmann syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del
NC_000019.9:g.(?_917332)_(921006_?)del
NC_000020.10:g.(?_5279863)_(5283383_5294557)del
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) rs886039395
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_018117.12(WDR11):c.1849G>T (p.Glu617Ter) rs1847196520
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834

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