ClinVar Miner

List of variants in gene AARS1 studied for neonatal-onset developmental and epileptic encephalopathy

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe) rs527414180 0.00007
NM_001605.3(AARS1):c.1878C>T (p.Gly626=) rs752673097 0.00006
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln) rs142850278 0.00005
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001605.3(AARS1):c.959G>A (p.Arg320His) rs557600847 0.00004
NM_001605.3(AARS1):c.1969A>G (p.Asn657Asp) rs749039663 0.00003
NM_001605.3(AARS1):c.1007A>G (p.His336Arg) rs1025002934 0.00001
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile) rs144982168 0.00001
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala) rs145056270 0.00001
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) rs786205157 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp) rs369774476 0.00001
NM_001605.3(AARS1):c.726G>A (p.Met242Ile) rs780360628 0.00001
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) rs758183257 0.00001
NM_001605.3(AARS1):c.-21-11dup rs756492963
NM_001605.3(AARS1):c.141C>A (p.Asn47Lys)
NM_001605.3(AARS1):c.1574G>A (p.Cys525Tyr) rs2152156655
NM_001605.3(AARS1):c.161T>C (p.Leu54Pro) rs2152167069
NM_001605.3(AARS1):c.1741G>A (p.Gly581Ser) rs762734676
NM_001605.3(AARS1):c.1786C>T (p.Pro596Ser) rs780249378
NM_001605.3(AARS1):c.1897del (p.Arg633fs) rs2152154412
NM_001605.3(AARS1):c.1980dup (p.Glu661Ter)
NM_001605.3(AARS1):c.2067dup (p.Tyr690fs) rs2152153611
NM_001605.3(AARS1):c.2248C>T (p.Arg750Trp) rs751300562
NM_001605.3(AARS1):c.232G>T (p.Ala78Ser)
NM_001605.3(AARS1):c.241A>G (p.Lys81Glu) rs2152167014
NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser) rs1555539157
NM_001605.3(AARS1):c.287C>T (p.Thr96Ile)
NM_001605.3(AARS1):c.296A>G (p.Glu99Gly) rs2152166979
NM_001605.3(AARS1):c.562_563inv (p.Ser188Leu)
NM_001605.3(AARS1):c.74A>G (p.Tyr25Cys) rs1300927114
NM_001605.3(AARS1):c.778A>G (p.Thr260Ala) rs1165867512
NM_001605.3(AARS1):c.86C>T (p.Ser29Phe) rs2152170413
NM_001605.3(AARS1):c.887G>A (p.Arg296Gln)
NM_001605.3(AARS1):c.989G>A (p.Arg330Gln)

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