ClinVar Miner

List of variants reported as benign for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56003
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.43817
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35424
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.32332
NM_021830.5(TWNK):c.*766A>T rs3740488 0.29073
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08015
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01296
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00127
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00119
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00032
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00024
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00018
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_002693.3:c.2734+39_2734+40insAGGT rs2152061162
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752

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