ClinVar Miner

List of variants in gene SDHA studied for Mitochondrial complex II deficiency, nuclear type 1

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Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.1795-66C>T rs387134 0.98913
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_004168.4(SDHA):c.456+91G>C rs12520059 0.38073
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.25187
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.3(SDHA):c.-115T>C rs2303741 0.25160
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_004168.4(SDHA):c.1908+90A>G rs6888536 0.25155
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960 0.24550
NM_004168.4(SDHA):c.1908+85G>A rs6864807 0.21789
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_004168.4(SDHA):c.1908+15C>T rs34504623 0.08152
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044 0.01515
NM_004168.4(SDHA):c.-4A>G rs377134185 0.01501
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.*249T>C rs189989110 0.00459
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_004168.4(SDHA):c.*133G>C rs193112615 0.00255
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052 0.00245
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00206
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171 0.00117
NM_004168.4(SDHA):c.1002G>A (p.Ala334=) rs144252500 0.00075
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807 0.00046
NM_004168.4(SDHA):c.*179G>A rs980815395 0.00031
NM_004168.4(SDHA):c.895+13G>A rs201461936 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004168.4(SDHA):c.-2A>T rs763680697 0.00022
NM_004168.4(SDHA):c.777C>T (p.Tyr259=) rs140243793 0.00014
NM_004168.4(SDHA):c.1979C>G (p.Ala660Gly) rs191412461 0.00013
NM_004168.4(SDHA):c.*189C>T rs185107377 0.00010
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384 0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115 0.00009
NM_004168.4(SDHA):c.1527G>A (p.Ser509=) rs746453879 0.00008
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259 0.00008
NM_004168.4(SDHA):c.*102G>A rs1009017730 0.00006
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772 0.00005
NM_004168.4(SDHA):c.1014G>A (p.Ala338=) rs201341132 0.00004
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619 0.00004
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) rs780064103 0.00004
NM_004168.4(SDHA):c.424A>G (p.Met142Val) rs776848209 0.00003
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889 0.00003
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) rs778737664 0.00003
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407 0.00002
NM_004168.4(SDHA):c.1725G>A (p.Ala575=) rs758252610 0.00002
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) rs1318046349 0.00002
NM_004168.4(SDHA):c.1799G>A (p.Arg600Gln) rs1126568 0.00002
NM_004168.3(SDHA):c.-63G>A rs886060513 0.00001
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) rs746165168 0.00001
NM_004168.4(SDHA):c.1127T>C (p.Leu376Pro) rs1433477205 0.00001
NM_004168.4(SDHA):c.1188G>A (p.Thr396=) rs778667374 0.00001
NM_004168.4(SDHA):c.1242C>T (p.Pro414=) rs777306884 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1781G>A (p.Arg594Lys) rs1302547655 0.00001
NM_004168.4(SDHA):c.488C>T (p.Thr163Ile) rs375067326 0.00001
NM_004168.4(SDHA):c.558C>T (p.Ala186=) rs199618059 0.00001
NM_004168.4(SDHA):c.896-11G>T rs774043076 0.00001
NM_001294332.1(SDHA):c.[313-449G>C;1405A>G]
NM_004168.3(SDHA):c.-84dup rs35805262
NM_004168.4(SDHA):c.*75A>G rs886060517
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1092C>T (p.Val364=) rs886060515
NM_004168.4(SDHA):c.1177G>A (p.Val393Met) rs372989971
NM_004168.4(SDHA):c.1177G>T (p.Val393Leu) rs372989971
NM_004168.4(SDHA):c.1244C>T (p.Thr415Ile)
NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) rs1553999752
NM_004168.4(SDHA):c.1432+1G>C rs878854628
NM_004168.4(SDHA):c.1526C>T (p.Ser509Leu) rs397514541
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) rs786205210
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu) rs137852768
NM_004168.4(SDHA):c.1795-1G>T rs778516878
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs) rs112307877
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu) rs6962
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004168.4(SDHA):c.1977A>G (p.Pro659=) rs768693502
NM_004168.4(SDHA):c.1984C>T (p.Arg662Cys) rs1737195067
NM_004168.4(SDHA):c.1A>C (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) rs886060514
NM_004168.4(SDHA):c.293C>T (p.Ser98Leu) rs1579381851
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn) rs1734960553
NM_004168.4(SDHA):c.480T>G (p.Phe160Leu) rs1060503711
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp) rs1337777456
NM_004168.4(SDHA):c.622-7C>T rs759371428
NM_004168.4(SDHA):c.771-11A>G rs2288461
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004168.4(SDHA):c.941A>C (p.Glu314Ala) rs1735550179

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