ClinVar Miner

List of variants reported as association by GeneReviews

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Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_007272.3(CTRC):c.180C>A (p.Gly60=) rs497078
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593
NM_194248.3(OTOF):c.2975_2976AG[1] (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.4467dup (p.Ile1490fs) rs797044816
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) rs111033405
NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp) rs397515603
NM_194248.3(OTOF):c.5407_5409GAG[1] (p.Glu1804del) rs397515607

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