ClinVar Miner

List of variants reported as uncertain significance for aniridia-cerebellar ataxia-intellectual disability syndrome

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) rs373694009 0.00019
NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) rs372881053 0.00006
NM_001378452.1(ITPR1):c.5270G>C (p.Arg1757Thr) rs949938763 0.00003
NM_001378452.1(ITPR1):c.5875G>A (p.Asp1959Asn) rs773864227 0.00003
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00002
NM_001378452.1(ITPR1):c.3830T>A (p.Ile1277Asn) rs773030719 0.00001
NM_001378452.1(ITPR1):c.4438G>A (p.Ala1480Thr) rs1392354334 0.00001
NM_001368894.2(PAX6):c.183C>G (p.Asn61Lys)
NM_001378452.1(ITPR1):c.1252-10T>A rs2125191741
NM_001378452.1(ITPR1):c.1600C>A (p.Pro534Thr) rs2093919890
NM_001378452.1(ITPR1):c.1639G>A (p.Ala547Thr) rs746128987
NM_001378452.1(ITPR1):c.226G>A (p.Ala76Thr)
NM_001378452.1(ITPR1):c.2354T>A (p.Leu785His) rs2125214071
NM_001378452.1(ITPR1):c.2473G>A (p.Ala825Thr) rs2094142451
NM_001378452.1(ITPR1):c.4249C>T (p.Arg1417Cys) rs1168676216
NM_001378452.1(ITPR1):c.4403G>T (p.Cys1468Phe)
NM_001378452.1(ITPR1):c.443G>A (p.Arg148Lys) rs2093352735
NM_001378452.1(ITPR1):c.4868G>A (p.Arg1623His) rs561526280
NM_001378452.1(ITPR1):c.6401A>G (p.Lys2134Arg)
NM_001378452.1(ITPR1):c.692A>T (p.Asp231Val)
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.833C>T (p.Ser278Leu)
NM_001378452.1(ITPR1):c.951+6_951+8del rs2093612036

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