List of variants in gene ITPR1 reported as uncertain significance for Spinocerebellar ataxia type 29

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser)	rs776099053	0.00001
NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro)	rs1260045423
NM_001378452.1(ITPR1):c.1176C>G (p.His392Gln)	rs2093820776
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser)	rs1559671950
NM_001378452.1(ITPR1):c.319A>G (p.Asn107Asp)	rs2093283649
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe)	rs762136714
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser)	rs1360324926
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)	rs797044955

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