List of variants in gene combination ITPR1, LOC126806590 reported as likely pathogenic for cerebellar ataxia

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)	rs1553757628
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)	rs752281590
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala)	rs869312685
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro)	rs2106494596

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