ClinVar Miner

List of variants in gene LOC129936736, QARS1 studied for Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005051.3(QARS1):c.25C>A (p.Leu9Ile) rs62621067 0.00220
NM_005051.3(QARS1):c.117+17C>T rs202012811 0.00167
NM_005051.3(QARS1):c.117+5G>A rs151099269 0.00042
NM_005051.3(QARS1):c.83C>A (p.Ala28Asp) rs148998142 0.00029
NM_005051.3(QARS1):c.117+4C>T rs749708983 0.00002
NM_005051.3(QARS1):c.117+6A>C rs1397101113 0.00001
NM_005051.3(QARS1):c.18C>T (p.Ser6=) rs780349624 0.00001
NM_005051.3(QARS1):c.19C>T (p.Leu7=) rs758656563 0.00001
NM_005051.3(QARS1):c.32C>G (p.Thr11Ser) rs1461865905 0.00001
NM_005051.3(QARS1):c.35G>A (p.Ser12Asn) rs1333683203 0.00001
NM_005051.3(QARS1):c.45G>C (p.Leu15=) rs756522994 0.00001
NM_005051.3(QARS1):c.64G>A (p.Glu22Lys) rs2042517058 0.00001
NM_005051.3(QARS1):c.72C>G (p.Leu24=) rs2042516875 0.00001
NM_005051.3(QARS1):c.90C>A (p.Ser30Arg) rs1221014964 0.00001
NM_005051.3(QARS1):c.90C>G (p.Ser30Arg) rs1221014964 0.00001
NM_005051.3(QARS1):c.92C>T (p.Ala31Val) rs371969519 0.00001
NM_005051.3(QARS1):c.93G>A (p.Ala31=) rs768289723 0.00001
NM_005051.3(QARS1):c.101G>C (p.Arg34Pro) rs1261477095
NM_005051.3(QARS1):c.107C>G (p.Ala36Gly) rs1575404644
NM_005051.3(QARS1):c.107C>T (p.Ala36Val) rs1575404644
NM_005051.3(QARS1):c.117+11C>T
NM_005051.3(QARS1):c.117+15G>A
NM_005051.3(QARS1):c.117+16C>T rs2107114792
NM_005051.3(QARS1):c.117+19C>G
NM_005051.3(QARS1):c.117+20_117+21delinsGA rs2107114770
NM_005051.3(QARS1):c.117+4C>G rs749708983
NM_005051.3(QARS1):c.117+7G>A rs2042515687
NM_005051.3(QARS1):c.117+8C>A
NM_005051.3(QARS1):c.16dup (p.Ser6fs)
NM_005051.3(QARS1):c.17C>T (p.Ser6Phe) rs2107115484
NM_005051.3(QARS1):c.21G>A (p.Leu7=) rs2107115428
NM_005051.3(QARS1):c.23C>T (p.Ser8Leu) rs773096335
NM_005051.3(QARS1):c.25C>G (p.Leu9Val) rs62621067
NM_005051.3(QARS1):c.30C>T (p.Phe10=)
NM_005051.3(QARS1):c.31A>G (p.Thr11Ala) rs2042517964
NM_005051.3(QARS1):c.33T>C (p.Thr11=)
NM_005051.3(QARS1):c.40G>A (p.Gly14Ser) rs1553752741
NM_005051.3(QARS1):c.42C>T (p.Gly14=)
NM_005051.3(QARS1):c.55_57del (p.Lys19del) rs1170759657
NM_005051.3(QARS1):c.57G>A (p.Lys19=)
NM_005051.3(QARS1):c.61C>A (p.Arg21Ser)
NM_005051.3(QARS1):c.84T>C (p.Ala28=) rs2107115030
NM_005051.3(QARS1):c.94C>T (p.Gln32Ter)
NM_005051.3(QARS1):c.96G>T (p.Gln32His) rs201606430
NM_005051.3(QARS1):c.96_97delinsAA (p.Leu33Met) rs2107114987

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