ClinVar Miner

List of variants in gene KATNIP reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_015202.5(KATNIP):c.2516A>G (p.Asp839Gly) rs139475287 0.01223
NM_015202.5(KATNIP):c.3913G>A (p.Glu1305Lys) rs61730241 0.00500
NM_015202.5(KATNIP):c.2130C>T (p.Asp710=) rs60859318 0.00450
NM_015202.5(KATNIP):c.1089C>T (p.Ala363=) rs61740297 0.00279
NM_015202.5(KATNIP):c.1303C>T (p.Leu435=) rs147645225 0.00278
NM_015202.5(KATNIP):c.2175T>C (p.Pro725=) rs146330054 0.00250
NM_015202.5(KATNIP):c.2277C>T (p.Pro759=) rs149945532 0.00232
NM_015202.5(KATNIP):c.1764G>A (p.Lys588=) rs148440556 0.00191
NM_015202.5(KATNIP):c.4668C>T (p.Thr1556=) rs113619157 0.00099
NM_015202.5(KATNIP):c.3957C>T (p.Pro1319=) rs138259068 0.00053
NM_015202.5(KATNIP):c.2467A>G (p.Lys823Glu) rs200031957 0.00045
NM_015202.5(KATNIP):c.834T>G (p.Ser278=) rs753980664 0.00022
NM_015202.5(KATNIP):c.4443G>A (p.Pro1481=) rs146629703 0.00013
NM_015202.5(KATNIP):c.2760G>A (p.Pro920=) rs146341012 0.00011
NM_015202.5(KATNIP):c.900A>G (p.Gln300=) rs150021148 0.00011
NM_015202.5(KATNIP):c.1902C>T (p.Asn634=) rs377098130 0.00010
NM_015202.5(KATNIP):c.-2G>A rs112949559 0.00005
NM_015202.5(KATNIP):c.4248C>T (p.Ile1416=) rs756116174 0.00002
NM_015202.5(KATNIP):c.1053C>T (p.Asn351=)
NM_015202.5(KATNIP):c.1852C>T (p.Leu618=)
NM_015202.5(KATNIP):c.1879G>A (p.Glu627Lys)
NM_015202.5(KATNIP):c.1971C>T (p.Leu657=)
NM_015202.5(KATNIP):c.2070C>T (p.Asp690=)
NM_015202.5(KATNIP):c.2103G>C (p.Leu701=)
NM_015202.5(KATNIP):c.243A>G (p.Lys81=)
NM_015202.5(KATNIP):c.2809G>T (p.Asp937Tyr) rs139603388
NM_015202.5(KATNIP):c.2856G>C (p.Gly952=)
NM_015202.5(KATNIP):c.297G>A (p.Thr99=)
NM_015202.5(KATNIP):c.2982C>T (p.Asn994=)
NM_015202.5(KATNIP):c.3492G>A (p.Thr1164=) rs142864286
NM_015202.5(KATNIP):c.3732C>T (p.His1244=)
NM_015202.5(KATNIP):c.4722C>G (p.Ala1574=)
NM_015202.5(KATNIP):c.4770C>T (p.Asn1590=)
NM_015202.5(KATNIP):c.537G>C (p.Pro179=) rs374427375
NM_015202.5(KATNIP):c.603C>T (p.Ser201=)
NM_015202.5(KATNIP):c.882G>T (p.Glu294Asp)

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