ClinVar Miner

List of variants in gene POLG, POLGARF studied for congenital myopathy

Included ClinVar conditions (317):
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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) rs771676521 0.00006
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) rs1450989575 0.00003
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.13C>T (p.Leu5Phe) rs761648850 0.00001
NM_002693.3(POLG):c.191C>G (p.Ser64Trp) rs1397887879 0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala) rs1399456619 0.00001
NM_002693.3(POLG):c.30C>T (p.Ala10=) rs1060504037 0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) rs759939229 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002693.3(POLG):c.88G>A (p.Val30Ile) rs1321405180 0.00001
NM_002693.2(POLG):c.[2554C>T];[32G>A]
NM_002693.2(POLG):c.[2693T>C];[924G>T]
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[5] (p.Gln50_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp) rs1596358408
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.2386A>C (p.Lys796Gln)
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg) rs1484810169
NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter) rs139562274
NM_002693.3(POLG):c.45dup (p.Pro16fs)
NM_002693.3(POLG):c.502G>C (p.Ala168Pro) rs2055619068
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
NM_002693.3(POLG):c.624C>A (p.Cys208Ter) rs1159974816
NM_002693.3(POLG):c.660-2A>G rs2141806882
NM_002693.3(POLG):c.67_88del (p.Gly23fs) rs2055630470
NM_002693.3(POLG):c.8G>C (p.Arg3Pro) rs121918045

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