List of variants reported as pathogenic for aniridia-cerebellar ataxia-intellectual disability syndrome by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001378452.1(ITPR1):c.2182C>T (p.Arg728Ter)	rs878853172
NM_001378452.1(ITPR1):c.4699C>T (p.Gln1567Ter)	rs878853171
NM_001378452.1(ITPR1):c.6326A>G (p.Glu2109Gly)	rs878853177
NM_001378452.1(ITPR1):c.6510+3A>T	rs878853173
NM_001378452.1(ITPR1):c.6808+5G>T	rs878853174
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)	rs752281590
NM_001378452.1(ITPR1):c.7660G>C (p.Gly2554Arg)	rs752281590
NM_001378452.1(ITPR1):c.7793T>A (p.Ile2598Asn)	rs1553758021
NM_001378452.1(ITPR1):c.7803T>G (p.Phe2601Leu)	rs878853176
NM_001378452.1(ITPR1):c.7828AAG[1] (p.Lys2611del)	rs878853175

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