ClinVar Miner

List of variants reported as pathogenic for Kallmann syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_144773.4(PROKR2):c.491G>A (p.Arg164Gln) rs751875578 0.00009
NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) rs886039395
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418

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