ClinVar Miner

List of variants in gene STK11 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.-127T>C rs532196225 0.00374
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000455.5(STK11):c.597+14del rs536282050 0.00067
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_000455.5(STK11):c.1108+531G>C rs925652247 0.00029
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_000455.5(STK11):c.651G>A (p.Pro217=) rs368348370 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000455.5(STK11):c.1130C>T (p.Ala377Val) rs199973552 0.00003
NM_000455.5(STK11):c.552C>T (p.Leu184=) rs587780719 0.00003
NM_000455.5(STK11):c.876C>T (p.Tyr292=) rs148928808 0.00003
NM_000455.5(STK11):c.464+5G>A rs587781681 0.00002
NM_000455.5(STK11):c.828C>T (p.Gly276=) rs200824447 0.00002
NM_000455.5(STK11):c.1108+521C>T rs572562074 0.00001
NM_000455.5(STK11):c.1128G>A (p.Glu376=) rs747018506 0.00001
NM_000455.5(STK11):c.147C>T (p.Tyr49=) rs751949296 0.00001
NM_000455.5(STK11):c.321C>T (p.His107=) rs878853987 0.00001
NM_000455.5(STK11):c.841C>A (p.Pro281Thr) rs377208033 0.00001
NM_000455.5(STK11):c.846C>G (p.Leu282=) rs777872290 0.00001
NM_000455.5(STK11):c.972G>A (p.Pro324=) rs553474397 0.00001
NC_000019.10:g.1201926G>A rs185744805
NM_000455.5(STK11):c.*38A>T
NM_000455.5(STK11):c.*475C>T rs2080840327
NM_000455.5(STK11):c.1108+460C>T
NM_000455.5(STK11):c.1108+479G>A
NM_000455.5(STK11):c.1108+527C>T
NM_000455.5(STK11):c.178dup (p.Tyr60fs)
NM_000455.5(STK11):c.435G>C (p.Glu145Asp)
NM_000455.5(STK11):c.580G>C (p.Asp194His) rs121913315
NM_000455.5(STK11):c.597+17G>C rs759464040
NM_000455.5(STK11):c.597+21dup rs534445875
NM_000455.5(STK11):c.617C>T (p.Ala206Val) rs764244639
NM_000455.5(STK11):c.721G>A (p.Ala241Thr) rs587780721
NM_000455.5(STK11):c.726G>A (p.Gly242=) rs776823114
NM_000455.5(STK11):c.863-2_863-1del rs2080787333
NM_000455.5(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212

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