ClinVar Miner

List of variants in gene PI4KB reported as uncertain significance

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001369623.2(PI4KB):c.1801C>G (p.Leu601Val) rs148958963 0.00020
NM_001369623.2(PI4KB):c.863A>G (p.Asn288Ser) rs200424946 0.00011
NM_001369623.2(PI4KB):c.934A>G (p.Ile312Val) rs762969703 0.00008
NM_001369623.2(PI4KB):c.508G>A (p.Glu170Lys) rs375283129 0.00006
NM_001369623.2(PI4KB):c.-17G>A rs767315825 0.00005
NM_001369623.2(PI4KB):c.1417G>A (p.Glu473Lys) rs367782946 0.00005
NM_001369623.2(PI4KB):c.2159G>A (p.Gly720Asp) rs202221345 0.00003
NM_001369623.2(PI4KB):c.749G>A (p.Arg250Lys) rs1287590316 0.00003
NM_001369623.2(PI4KB):c.1252A>G (p.Ile418Val) rs777966347 0.00001
NM_001369623.2(PI4KB):c.1300G>A (p.Glu434Lys) rs761275142 0.00001
NM_001369623.2(PI4KB):c.1310T>C (p.Ile437Thr) rs890184716 0.00001
NM_001369623.2(PI4KB):c.1355A>G (p.Tyr452Cys) rs749445506 0.00001
NM_001369623.2(PI4KB):c.1424A>G (p.His475Arg) rs377615591 0.00001
NM_001369623.2(PI4KB):c.1708C>T (p.Arg570Trp) rs1218091769 0.00001
NM_001369623.2(PI4KB):c.1769G>A (p.Arg590Gln) rs773543566 0.00001
NM_001369623.2(PI4KB):c.1771G>A (p.Val591Met) rs762018174 0.00001
NM_001369623.2(PI4KB):c.218C>T (p.Thr73Ile) rs1256582728 0.00001
NM_001369623.2(PI4KB):c.2339T>A (p.Met780Lys) rs1025558522 0.00001
NM_001369623.2(PI4KB):c.2392C>T (p.Arg798Trp) rs1447598009 0.00001
NM_001369623.2(PI4KB):c.412C>G (p.Leu138Val) rs376447621 0.00001
NM_001369623.2(PI4KB):c.524A>G (p.Tyr175Cys) rs774239767 0.00001
NM_001369623.2(PI4KB):c.853C>T (p.Leu285Phe) rs1297215520 0.00001
NM_001369623.2(PI4KB):c.-6G>T
NM_001369623.2(PI4KB):c.1201G>A (p.Val401Met) rs1695757753
NM_001369623.2(PI4KB):c.1265G>A (p.Arg422Gln)
NM_001369623.2(PI4KB):c.1810T>G (p.Ser604Ala) rs2528670109
NM_001369623.2(PI4KB):c.1814C>G (p.Ala605Gly) rs2528669844
NM_001369623.2(PI4KB):c.1885T>A (p.Ser629Thr) rs749628103
NM_001369623.2(PI4KB):c.2300G>A (p.Ser767Asn) rs2528589865
NM_001369623.2(PI4KB):c.2303C>T (p.Thr768Ile) rs1571119502
NM_001369623.2(PI4KB):c.2332A>G (p.Met778Val)
NM_001369623.2(PI4KB):c.2440G>A (p.Gly814Ser) rs965459912
NM_001369623.2(PI4KB):c.277C>A (p.Pro93Thr)
NM_001369623.2(PI4KB):c.317C>T (p.Ala106Val) rs1460989358
NM_001369623.2(PI4KB):c.47A>T (p.Glu16Val)
NM_001369623.2(PI4KB):c.47_58del (p.Glu16_Ser19del) rs2528861039
NM_001369623.2(PI4KB):c.52A>G (p.Thr18Ala)
NM_001369623.2(PI4KB):c.605G>A (p.Cys202Tyr)
NM_001369623.2(PI4KB):c.656A>T (p.Tyr219Phe)
NM_001369623.2(PI4KB):c.767C>T (p.Ser256Phe)
NM_001369623.2(PI4KB):c.770T>G (p.Leu257Trp) rs2528850514
NM_001369623.2(PI4KB):c.776C>T (p.Pro259Leu)
NM_001369623.2(PI4KB):c.784G>A (p.Asp262Asn)
NM_001369623.2(PI4KB):c.80G>A (p.Gly27Glu)

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