ClinVar Miner

List of variants reported as uncertain significance for Kallmann syndrome by Baylor Genetics

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_198391.3(FLRT3):c.1255A>T (p.Thr419Ser) rs769008665 0.00009
NM_000216.4(ANOS1):c.1536G>A (p.Lys512=) rs1449749900 0.00001
NM_001946.4(DUSP6):c.169G>A (p.Ala57Thr) rs936222145 0.00001
NM_017563.5(IL17RD):c.1373C>G (p.Ala458Gly) rs867131722 0.00001
NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys) rs200964201 0.00001
NM_000216.4(ANOS1):c.337A>C (p.Ser113Arg) rs1930756318
NM_017780.4(CHD7):c.2499-20A>G rs1803748923
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_032551.5(KISS1R):c.749T>A (p.Leu250Gln) rs752689988
NM_033163.5(FGF8):c.335_337+2del rs2065066261

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