ClinVar Miner

List of variants studied for Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome by Revvity Omics, Revvity

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005051.3(QARS1):c.117+5G>A rs151099269 0.00042
NM_005051.3(QARS1):c.1928A>G (p.Tyr643Cys) rs1396216642 0.00002
NM_005051.3(QARS1):c.602G>A (p.Arg201Gln) rs192040640 0.00002
NM_005051.3(QARS1):c.665A>C (p.Glu222Ala) rs1349950171 0.00002
NM_005051.3(QARS1):c.1822T>G (p.Phe608Val) rs145548376 0.00001
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005051.3(QARS1):c.1090G>C (p.Glu364Gln)
NM_005051.3(QARS1):c.1325_1326del (p.His442fs) rs2107101318
NM_005051.3(QARS1):c.1591G>A (p.Ala531Thr)
NM_005051.3(QARS1):c.2293del (p.Thr765fs) rs2107087591
NM_005051.3(QARS1):c.806C>T (p.Pro269Leu)

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