ClinVar Miner

List of variants in gene EARS2 reported as uncertain significance for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu) rs201929423 0.00118
NM_001083614.2(EARS2):c.670G>A (p.Gly224Ser) rs141129877 0.00087
NM_001083614.2(EARS2):c.873C>T (p.Asp291=) rs61742045 0.00019
NM_001083614.2(EARS2):c.949G>T (p.Gly317Cys) rs746838793 0.00013
NM_001083614.2(EARS2):c.351A>G (p.Gln117=) rs375906347 0.00011
NM_001083614.2(EARS2):c.1489-14C>T rs369770210 0.00010
NM_001083614.2(EARS2):c.558G>A (p.Ala186=) rs374363396 0.00010
NM_001083614.1(EARS2):c.-19G>A rs377067442 0.00006
NM_001083614.2(EARS2):c.1081C>T (p.Arg361Trp) rs761350541 0.00006
NM_001083614.2(EARS2):c.1488+15C>T rs201607271 0.00006
NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn) rs746087016 0.00004
NM_001083614.2(EARS2):c.1243G>A (p.Asp415Asn) rs763888954 0.00003
NM_001083614.2(EARS2):c.244C>T (p.Arg82Cys) rs201848368 0.00003
NM_001083614.2(EARS2):c.1071G>A (p.Leu357=) rs769677259 0.00002
NM_001083614.2(EARS2):c.1234C>T (p.Arg412Cys) rs549058278 0.00002
NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val) rs201181229 0.00002
NM_001083614.2(EARS2):c.403G>A (p.Gly135Arg) rs762685823 0.00002
NM_001083614.2(EARS2):c.851A>G (p.Lys284Arg) rs760964412 0.00002
NM_001083614.2(EARS2):c.913G>A (p.Asp305Asn) rs368574794 0.00002
NM_001083614.2(EARS2):c.1193A>G (p.Tyr398Cys) rs571483034 0.00001
NM_001083614.2(EARS2):c.1491A>G (p.Gln497=) rs745678462 0.00001
NM_001083614.2(EARS2):c.197A>T (p.Lys66Met) rs779972107 0.00001
NM_001083614.2(EARS2):c.1015G>T (p.Val339Phe)
NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg) rs767133394
NM_001083614.2(EARS2):c.1409A>G (p.Lys470Arg) rs774269217
NM_001083614.2(EARS2):c.1488+16G>A
NM_001083614.2(EARS2):c.1488+61del
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile) rs201941745
NM_001083614.2(EARS2):c.236A>T (p.Asp79Val)
NM_001083614.2(EARS2):c.263C>T (p.Ala88Val) rs201929423
NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala)
NM_001083614.2(EARS2):c.569G>A (p.Arg190His) rs533072942
NM_001083614.2(EARS2):c.745G>C (p.Glu249Gln) rs1965392345
NM_001083614.2(EARS2):c.790C>G (p.Leu264Val) rs1555503379
NM_001083614.2(EARS2):c.874G>A (p.Val292Ile) rs199575087
NM_001083614.2(EARS2):c.959-15C>T rs554499460
NM_001083614.2(EARS2):c.994A>C (p.Thr332Pro) rs1366954580

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