ClinVar Miner

List of variants in gene KATNB1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005886.3(KATNB1):c.93C>T (p.Ala31=) rs146372886 0.00533
NM_005886.3(KATNB1):c.856-5T>G rs200584307 0.00490
NM_005886.3(KATNB1):c.1635C>T (p.Asn545=) rs141797415 0.00128
NM_005886.3(KATNB1):c.654G>A (p.Leu218=) rs188281175 0.00082
NM_005886.3(KATNB1):c.1416C>T (p.Pro472=) rs138373737 0.00055
NM_005886.3(KATNB1):c.1731G>A (p.Thr577=) rs782609580 0.00006
NM_005886.3(KATNB1):c.1404C>T (p.Ser468=) rs781990513 0.00003
NM_005886.3(KATNB1):c.1486G>A (p.Asp496Asn) rs201307275 0.00001
NM_005886.3(KATNB1):c.1193G>A (p.Arg398Gln)
NM_005886.3(KATNB1):c.1296+3A>G
NM_005886.3(KATNB1):c.579C>T (p.Asn193=)
NM_005886.3(KATNB1):c.930G>A (p.Thr310=) rs147460464

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