ClinVar Miner

List of variants reported as other for cholesteatoma of middle ear

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu) rs754529382 0.00001
NM_002467.6(MYC):c.220C>G (p.Pro74Ala) rs121918685
NM_002467.6(MYC):c.223C>A (p.Pro75Thr)
NM_017617.5(NOTCH1):c.1412T>C (p.Ile471Thr)
NM_017617.5(NOTCH1):c.3304G>T (p.Glu1102Ter)
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg) rs1843064220

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