ClinVar Miner

List of variants reported as benign for Mitochondrial complex II deficiency, nuclear type 1; Dilated cardiomyopathy 1GG; Paragangliomas 5; Neurodegeneration with ataxia and late-onset optic atrophy

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.24028
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.09677
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044 0.01515
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538 0.01372
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391 0.01114
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344 0.00892
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00214
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807 0.00078
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056

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