ClinVar Miner

List of variants studied for Aural atresia, congenital by Illumina Laboratory Services, Illumina

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001308210.2(TSHZ1):c.-981del rs886054105 0.00348
NM_001308210.2(TSHZ1):c.-982_-981insGG rs767833741 0.00064
NM_001308210.2(TSHZ1):c.-982dup rs767833741 0.00064
NM_001308210.2(TSHZ1):c.-727G>A rs762506031 0.00014
NM_001308210.2(TSHZ1):c.-726C>G rs763707409 0.00006
NM_001308210.2(TSHZ1):c.*441_*442dup rs777123658
NM_001308210.2(TSHZ1):c.*442_*445del rs886054119
NM_001308210.2(TSHZ1):c.-738dup rs369841992
NM_001308210.2(TSHZ1):c.-866dup rs66582660
NM_001308210.2(TSHZ1):c.-867_-866dup rs66582660
NM_001308210.2(TSHZ1):c.-970dup rs372787732
NM_001308210.2(TSHZ1):c.-971_-970dup rs372787732
NM_001308210.2(TSHZ1):c.-981_-979del rs886054104
NM_001308210.2(TSHZ1):c.-981_-980del rs376458726
NM_001308210.2(TSHZ1):c.-981_-980dup rs376458726
NM_001308210.2(TSHZ1):c.-983dup rs886054103
NM_001308210.2(TSHZ1):c.1984_1986del (p.Glu662del) rs756583304

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