ClinVar Miner

List of variants in gene BUB1B studied for digestive system cancer

Included ClinVar conditions (140):
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001211.6(BUB1B):c.2143+15C>T rs11630664 0.46333
NM_001211.6(BUB1B):c.1164G>A (p.Ala388=) rs1047130 0.22814
NM_001211.6(BUB1B):c.282G>A (p.Lys94=) rs1801389 0.13756
NM_001211.6(BUB1B):c.1853T>C (p.Val618Ala) rs1801528 0.08536
NM_001211.6(BUB1B):c.1170G>C (p.Glu390Asp) rs1017842 0.03695
NM_001211.6(BUB1B):c.2523C>T (p.Cys841=) rs34999621 0.02415
NM_001211.6(BUB1B):c.1623T>C (p.Asn541=) rs1129352 0.02405
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) rs56079734 0.02335
NM_001211.6(BUB1B):c.348T>C (p.Tyr116=) rs28989189 0.00587
NM_001211.6(BUB1B):c.751+15C>T rs74499462 0.00241
NM_001211.6(BUB1B):c.1230C>T (p.Phe410=) rs61733369 0.00094
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425 0.00063
NM_001211.6(BUB1B):c.573C>A (p.Ser191=) rs138809057 0.00048
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp) rs148159407 0.00041
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=) rs141013408 0.00033
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile) rs148348158 0.00016
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile) rs146795655 0.00011
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser) rs138332995 0.00011
NM_001211.6(BUB1B):c.255A>G (p.Thr85=) rs140273483 0.00005
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg) rs373256667 0.00004
NM_001211.6(BUB1B):c.1382A>C (p.Gln461Pro) rs747886467 0.00004
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181 0.00002
NM_001211.6(BUB1B):c.234G>T (p.Trp78Cys) rs760085736 0.00001
NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys) rs1212671249 0.00001
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del) rs778590557
NM_001211.6(BUB1B):c.1453G>A (p.Glu485Lys) rs770704003
NM_001211.6(BUB1B):c.2284+17T>G rs13380241
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu) rs776363221
NM_001211.6(BUB1B):c.737G>A (p.Gly246Glu) rs1407334063

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