ClinVar Miner

List of variants in gene combination ANKH, OTULIN reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.*2107A>G rs25991 0.99530
NM_054027.6(ANKH):c.*1271A>C rs25990 0.99333
NM_054027.6(ANKH):c.*3706G>A rs25992 0.94400
NM_054027.6(ANKH):c.*3928C>T rs27911 0.87139
NM_054027.6(ANKH):c.*5641A>G rs26307 0.71463
NM_054027.6(ANKH):c.*31A>G rs3045 0.09134
NM_054027.6(ANKH):c.*510C>T rs17364066 0.06225
NM_054027.6(ANKH):c.*561C>T rs116140147 0.02411
NM_054027.6(ANKH):c.*3628T>C rs141052195 0.01460
NM_054027.6(ANKH):c.*3420T>C rs79059123 0.01452
NM_054027.6(ANKH):c.*580C>T rs192753009 0.01397
NM_054027.6(ANKH):c.*283C>T rs36072175 0.01320
NM_054027.6(ANKH):c.*4219T>C rs147322366 0.00820
NM_054027.6(ANKH):c.*4428T>C rs563509166 0.00013
NM_054027.6(ANKH):c.1430C>T (p.Pro477Leu) rs773377820 0.00001
NM_054027.6(ANKH):c.*2113del rs753413461
NM_054027.6(ANKH):c.*5912del rs765143871
NM_054027.6(ANKH):c.1366-79G>A rs73048824

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