ClinVar Miner

List of variants studied for Spinocerebellar ataxia type 15/16 by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.4541G>A (p.Arg1514His) rs749048534 0.00002
NM_001378452.1(ITPR1):c.3026G>A (p.Arg1009Gln) rs1574832115 0.00001
NM_001378452.1(ITPR1):c.3206C>T (p.Thr1069Ile) rs747698039 0.00001
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del) rs1559603328
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955

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