ClinVar Miner

List of variants in gene BUB1B reported as not provided for not specified

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001211.6(BUB1B):c.1046G>A (p.Arg349Gln) rs1801376 0.72576
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.119C>T (p.Thr40Met) rs56079734 0.02335
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425 0.00063
NM_001211.6(BUB1B):c.805A>G (p.Asn269Asp) rs148159407 0.00041
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile) rs146795655 0.00011
NM_001211.6(BUB1B):c.388C>T (p.Arg130Cys) rs587778144 0.00002
NM_001211.6(BUB1B):c.1464A>T (p.Lys488Asn) rs368023159 0.00001
NM_001211.6(BUB1B):c.572C>T (p.Ser191Phe) rs587778145 0.00001
NM_001211.6(BUB1B):c.676A>C (p.Thr226Pro) rs587778146 0.00001
NM_001211.6(BUB1B):c.1041_1042del (p.Ala348fs) rs587778148
NM_001211.6(BUB1B):c.1066T>C (p.Cys356Arg) rs370655726
NM_001211.6(BUB1B):c.1232C>G (p.Ser411Cys) rs587778149
NM_001211.6(BUB1B):c.1397A>C (p.Asp466Ala) rs587778140
NM_001211.6(BUB1B):c.1617GAA[1] (p.Lys540del) rs587778141
NM_001211.6(BUB1B):c.1879T>C (p.Ser627Pro) rs587778142
NM_001211.6(BUB1B):c.2480A>G (p.Gln827Arg) rs587778143
NM_001211.6(BUB1B):c.779A>G (p.Asn260Ser) rs587778147

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