ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability-strabismus syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_138422.4(ADAT3):c.551A>G (p.Gln184Arg) rs754448917 0.00018
NM_138422.4(ADAT3):c.292C>G (p.Arg98Gly) rs774805201 0.00015
NM_138422.4(ADAT3):c.440G>A (p.Arg147Gln) rs562447196 0.00011
NM_138422.4(ADAT3):c.874C>T (p.Pro292Ser) rs772924757 0.00006
NM_138422.4(ADAT3):c.59C>T (p.Ala20Val) rs764240025 0.00003
NM_138422.4(ADAT3):c.751G>A (p.Gly251Ser) rs752566822 0.00003
NM_138422.4(ADAT3):c.640G>A (p.Val214Met) rs1455459409 0.00001
NM_138422.4(ADAT3):c.748C>T (p.Arg250Cys) rs1368212261 0.00001
NM_138422.4(ADAT3):c.875C>T (p.Pro292Leu) rs376020426 0.00001
NM_138422.4(ADAT3):c.1001G>T (p.Gly334Val) rs753590636
NM_138422.4(ADAT3):c.338C>G (p.Ala113Gly) rs2013509956
NM_138422.4(ADAT3):c.427C>G (p.Pro143Ala) rs2512106937
NM_138422.4(ADAT3):c.482_487dup (p.Trp162_Pro163insHisTrp) rs1366321891
NM_138422.4(ADAT3):c.545C>T (p.Ser182Phe) rs1287323150
NM_138422.4(ADAT3):c.54G>C (p.Glu18Asp) rs2013484636
NM_138422.4(ADAT3):c.820dup (p.Gln274fs) rs775575809
NM_138422.4(ADAT3):c.841G>A (p.Val281Met)
NM_138422.4(ADAT3):c.877T>A (p.Tyr293Asn) rs2013561587
NM_138422.4(ADAT3):c.897C>G (p.Asp299Glu) rs757728126
NM_138422.4(ADAT3):c.941T>C (p.Leu314Pro) rs2145439743
NM_138422.4(ADAT3):c.947A>C (p.His316Pro) rs754285783

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