ClinVar Miner

List of variants in gene KATNAL2 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001387690.1(KATNAL2):c.479G>A (p.Ser160Asn) rs7233515 0.39609
NM_001387690.1(KATNAL2):c.1380T>G (p.Thr460=) rs2289130 0.06686
NM_001387690.1(KATNAL2):c.882C>T (p.Gly294=) rs56297904 0.01166
NM_001387690.1(KATNAL2):c.649-3C>T rs117367547 0.00286
NM_001387690.1(KATNAL2):c.1260C>T (p.Val420=) rs138624868 0.00232
NM_001387690.1(KATNAL2):c.290-5C>A rs144819676 0.00168
NM_001387690.1(KATNAL2):c.402G>A (p.Ala134=) rs144860304 0.00124
NM_001387690.1(KATNAL2):c.385C>T (p.Arg129Trp) rs148791504 0.00062
NM_001387690.1(KATNAL2):c.909G>A (p.Leu303=) rs151109801 0.00039
NM_001387690.1(KATNAL2):c.470G>A (p.Arg157His) rs148023825 0.00036
NM_001387690.1(KATNAL2):c.959C>T (p.Ala320Val) rs140833601 0.00024
NM_001387690.1(KATNAL2):c.333G>A (p.Arg111=) rs144415900 0.00019
NM_001387690.1(KATNAL2):c.905T>C (p.Leu302Ser) rs540379826 0.00014
NM_001387690.1(KATNAL2):c.691A>G (p.Ser231Gly) rs536393526 0.00012
NM_001387690.1(KATNAL2):c.1504T>C (p.Leu502=) rs373628714 0.00004
NM_001387690.1(KATNAL2):c.1329G>A (p.Arg443=) rs748850189 0.00001
NM_001387690.1(KATNAL2):c.1582T>C (p.Tyr528His) rs1375140684 0.00001
NM_001387690.1(KATNAL2):c.376C>T (p.Gln126Ter) rs767629580 0.00001
NM_001387690.1(KATNAL2):c.1003G>A (p.Val335Ile)
NM_001387690.1(KATNAL2):c.1003G>C (p.Val335Leu)
NM_001387690.1(KATNAL2):c.1028G>A (p.Arg343His)
NM_001387690.1(KATNAL2):c.1036G>A (p.Ala346Thr)
NM_001387690.1(KATNAL2):c.1123C>A (p.Arg375=) rs764164096
NM_001387690.1(KATNAL2):c.1124G>A (p.Arg375Gln)
NM_001387690.1(KATNAL2):c.1137G>T (p.Glu379Asp)
NM_001387690.1(KATNAL2):c.1173A>C (p.Glu391Asp) rs112035176
NM_001387690.1(KATNAL2):c.1173A>T (p.Glu391Asp)
NM_001387690.1(KATNAL2):c.1261G>A (p.Asp421Asn)
NM_001387690.1(KATNAL2):c.1273C>T (p.Arg425Trp)
NM_001387690.1(KATNAL2):c.1288G>A (p.Ala430Thr)
NM_001387690.1(KATNAL2):c.1288G>T (p.Ala430Ser)
NM_001387690.1(KATNAL2):c.1289C>A (p.Ala430Asp)
NM_001387690.1(KATNAL2):c.1300C>T (p.His434Tyr) rs750752777
NM_001387690.1(KATNAL2):c.1361G>A (p.Ser454Asn)
NM_001387690.1(KATNAL2):c.1362T>C (p.Ser454=)
NM_001387690.1(KATNAL2):c.1393G>C (p.Gly465Arg)
NM_001387690.1(KATNAL2):c.1396T>C (p.Ser466Pro)
NM_001387690.1(KATNAL2):c.1429A>G (p.Met477Val)
NM_001387690.1(KATNAL2):c.1435C>T (p.Pro479Ser)
NM_001387690.1(KATNAL2):c.1485C>T (p.Ser495=) rs1336974983
NM_001387690.1(KATNAL2):c.1511T>C (p.Ile504Thr)
NM_001387690.1(KATNAL2):c.1516A>G (p.Thr506Ala)
NM_001387690.1(KATNAL2):c.1539G>T (p.Val513=) rs1383144220
NM_001387690.1(KATNAL2):c.1561G>A (p.Ala521Thr)
NM_001387690.1(KATNAL2):c.306G>A (p.Pro102=)
NM_001387690.1(KATNAL2):c.401C>T (p.Ala134Val)
NM_001387690.1(KATNAL2):c.467C>G (p.Thr156Ser)
NM_001387690.1(KATNAL2):c.489C>T (p.Phe163=)
NM_001387690.1(KATNAL2):c.503C>T (p.Ser168Leu)
NM_001387690.1(KATNAL2):c.545G>A (p.Arg182Gln)
NM_001387690.1(KATNAL2):c.690C>G (p.Asn230Lys)
NM_001387690.1(KATNAL2):c.705A>T (p.Glu235Asp)
NM_001387690.1(KATNAL2):c.715G>A (p.Val239Met)
NM_001387690.1(KATNAL2):c.718G>A (p.Val240Met)
NM_001387690.1(KATNAL2):c.749A>G (p.Asn250Ser) rs776011849
NM_001387690.1(KATNAL2):c.777T>C (p.Leu259=)
NM_001387690.1(KATNAL2):c.793T>G (p.Leu265Val)
NM_001387690.1(KATNAL2):c.814T>C (p.Tyr272His)
NM_001387690.1(KATNAL2):c.835C>A (p.Leu279Ile)
NM_001387690.1(KATNAL2):c.880_883del (p.Gly294fs)
NM_001387690.1(KATNAL2):c.890-3T>C
NM_001387690.1(KATNAL2):c.985G>A (p.Gly329Arg) rs367652391

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