ClinVar Miner

List of variants studied for Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer by Fulgent Genetics, Fulgent Genetics

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met) rs56079734 0.02335
NM_001211.6(BUB1B):c.751+15C>T rs74499462 0.00241
NM_001211.6(BUB1B):c.1943C>T (p.Thr648Ile) rs148348158 0.00029
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His) rs28989183 0.00029
NM_001211.6(BUB1B):c.1227A>C (p.Glu409Asp) rs28989188 0.00027
NM_001211.6(BUB1B):c.2351C>T (p.Ala784Val) rs142705245 0.00013
NM_001211.6(BUB1B):c.1478C>T (p.Thr493Ile) rs146795655 0.00011
NM_001211.6(BUB1B):c.464A>G (p.Tyr155Cys) rs764923350 0.00006
NM_001211.6(BUB1B):c.959A>G (p.Glu320Gly) rs771382233 0.00005
NM_001211.6(BUB1B):c.1150A>G (p.Ser384Gly) rs202114756 0.00004
NM_001211.6(BUB1B):c.1361A>G (p.Lys454Arg) rs373256667 0.00004
NM_001211.6(BUB1B):c.542A>G (p.Gln181Arg) rs375798678 0.00004
NM_001211.6(BUB1B):c.2386-11A>G rs751421137 0.00003
NM_001211.6(BUB1B):c.440T>C (p.Ile147Thr) rs763623522 0.00003
NM_001211.6(BUB1B):c.484T>C (p.Tyr162His) rs77520855 0.00003
NM_001211.6(BUB1B):c.1875A>G (p.Ile625Met) rs541881263 0.00002
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) rs28989181 0.00002
NM_001211.6(BUB1B):c.2810A>G (p.Glu937Gly) rs755941900 0.00002
NM_001211.6(BUB1B):c.1163C>T (p.Ala388Val) rs771602632 0.00001
NM_001211.6(BUB1B):c.1464A>T (p.Lys488Asn) rs368023159 0.00001
NM_001211.6(BUB1B):c.2271G>T (p.Lys757Asn) rs1007572176 0.00001
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.2792G>A (p.Arg931Gln) rs751509832 0.00001
NM_001211.6(BUB1B):c.2979G>T (p.Trp993Cys) rs1060499945 0.00001
NM_001211.6(BUB1B):c.3022A>G (p.Thr1008Ala) rs750610809 0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185 0.00001
NM_001211.6(BUB1B):c.596G>A (p.Arg199Gln) rs779260067 0.00001
NM_001211.6(BUB1B):c.1168GAG[1] (p.Glu391del) rs778590557
NM_001211.6(BUB1B):c.1636G>A (p.Ala546Thr)
NM_001211.6(BUB1B):c.1784G>T (p.Gly595Val)
NM_001211.6(BUB1B):c.2051G>C (p.Gly684Ala)
NM_001211.6(BUB1B):c.239+2T>C
NM_001211.6(BUB1B):c.2434A>G (p.Lys812Glu)
NM_001211.6(BUB1B):c.243del (p.Arg80_Tyr81insTer)
NM_001211.6(BUB1B):c.2450A>C (p.Glu817Ala)
NM_001211.6(BUB1B):c.2842C>T (p.Pro948Ser)
NM_001211.6(BUB1B):c.2905C>G (p.Leu969Val)
NM_001211.6(BUB1B):c.2927C>T (p.Ser976Phe)
NM_001211.6(BUB1B):c.418A>G (p.Ser140Gly)
NM_001211.6(BUB1B):c.458A>T (p.Gln153Leu) rs776363221
NM_001211.6(BUB1B):c.74G>A (p.Ser25Asn)
NM_001211.6(BUB1B):c.995del (p.Ala332fs)

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