ClinVar Miner

List of variants in gene BTK reported as likely pathogenic for congenital hypogonadotropic hypogonadism

Included ClinVar conditions (68):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)
NM_000061.3(BTK):c.1300_1909-813del
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del) rs1927166327
NM_000061.3(BTK):c.1361A>C (p.His454Pro)
NM_000061.3(BTK):c.1361A>G (p.His454Arg)
NM_000061.3(BTK):c.1361A>T (p.His454Leu)
NM_000061.3(BTK):c.141+1G>C
NM_000061.3(BTK):c.1513G>T (p.Val505Phe) rs1603004514
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly) rs128621201
NM_000061.3(BTK):c.1563C>G (p.Asp521Glu) rs2147427209
NM_000061.3(BTK):c.1567-117_1604del rs2147425786
NM_000061.3(BTK):c.1631+5G>C rs1926404279
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)
NM_000061.3(BTK):c.167T>C (p.Ile56Thr) rs1927146374
NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)
NM_000061.3(BTK):c.1696C>T (p.Pro566Ser) rs1603002421
NM_000061.3(BTK):c.1745C>T (p.Ala582Val)
NM_000061.3(BTK):c.1747T>G (p.Phe583Val) rs1926378381
NM_000061.3(BTK):c.1763G>T (p.Trp588Leu) rs1603001805
NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)
NM_000061.3(BTK):c.1889T>C (p.Met630Thr) rs128621210
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser) rs1926352588
NM_000061.3(BTK):c.1908+1G>T rs2147423955
NM_000061.3(BTK):c.1908+2dup
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu) rs1926219727
NM_000061.3(BTK):c.240+109C>A rs2147447393
NM_000061.3(BTK):c.305T>C (p.Phe102Ser) rs2147444867
NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)
NM_000061.3(BTK):c.460T>G (p.Cys154Gly)
NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)
NM_000061.3(BTK):c.839+1G>C rs1569292649
NM_000061.3(BTK):c.840-1G>A rs193922131
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.884T>C (p.Leu295Pro) rs1926588125
NM_000061.3(BTK):c.974+5G>C rs2147430161

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