ClinVar Miner

List of variants studied for Intellectual disability-strabismus syndrome by Baylor Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
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.430G>A (p.Val144Met) rs730882213 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.54G>C (p.Glu18Asp) rs2013484636
NM_138422.4(ADAT3):c.897C>G (p.Asp299Glu) rs757728126

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