ClinVar Miner

List of variants in gene F11 reported by Revvity Omics, Revvity

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00066
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00064
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.1327C>T (p.Arg443Cys) rs369435407 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00002
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 0.00001
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600 0.00001
NM_000128.4(F11):c.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.1837G>A (p.Glu613Lys) rs760612112 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.1275_1281dup (p.Thr428fs) rs1580098946
NM_000128.4(F11):c.1469T>C (p.Val490Ala) rs2477407508
NM_000128.4(F11):c.738del (p.Trp246fs) rs2477280470

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