ClinVar Miner

List of variants reported as pathogenic for Paragangliomas 5 by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) rs746165168 0.00001
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) rs151170408 0.00001
NM_004168.4(SDHA):c.1338del (p.His447fs) rs1735791499 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004168.4(SDHA):c.1629T>G (p.Tyr543Ter) rs747249998 0.00001
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) rs775827529 0.00001
NM_004168.4(SDHA):c.775del (p.Tyr259fs) rs1553998606 0.00001
NM_004168.4(SDHA):c.985C>T (p.Arg329Ter) rs771328239 0.00001
NM_004168.4(SDHA):c.1012del (p.Ala338fs) rs1295239305
NM_004168.4(SDHA):c.1045_1046del (p.Leu349fs) rs1735565649
NM_004168.4(SDHA):c.1192del (p.Glu398fs) rs2477364281
NM_004168.4(SDHA):c.124_125dup (p.Ala43fs) rs1385076821
NM_004168.4(SDHA):c.1257del (p.Gln420fs) rs2477365465
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter) rs1579407009
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs) rs2477374565
NM_004168.4(SDHA):c.1367C>A (p.Ser456Ter) rs76896145
NM_004168.4(SDHA):c.1373T>A (p.Leu458Ter) rs2477376256
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1473del (p.Glu491fs) rs2477397838
NM_004168.4(SDHA):c.1526_1527delinsGA (p.Ser509Ter) rs1064793567
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1586del (p.Gly529fs)
NM_004168.4(SDHA):c.1608del (p.Cys536fs) rs2477454917
NM_004168.4(SDHA):c.160C>T (p.Gln54Ter) rs1560985916
NM_004168.4(SDHA):c.1615dup (p.Ile539fs) rs1554001843
NM_004168.4(SDHA):c.1663G>T (p.Gly555Ter) rs1392860800
NM_004168.4(SDHA):c.1665_1670delinsTCCC (p.Met556fs) rs2477457583
NM_004168.4(SDHA):c.1740C>G (p.Tyr580Ter) rs3181540
NM_004168.4(SDHA):c.1755_1759del (p.Lys586fs) rs1561010916
NM_004168.4(SDHA):c.1A>C (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.23C>A (p.Ser8Ter) rs878854631
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer) rs2126542910
NM_004168.4(SDHA):c.244G>T (p.Glu82Ter) rs2477286479
NM_004168.4(SDHA):c.2T>A (p.Met1Lys) rs750380279
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.310C>T (p.Gln104Ter) rs1423978863
NM_004168.4(SDHA):c.324dup (p.Ala109fs) rs2477294151
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) rs1734957331
NM_004168.4(SDHA):c.378del (p.Thr126_Val127insTer) rs1553997617
NM_004168.4(SDHA):c.3G>A (p.Met1Ile) rs2126522051
NM_004168.4(SDHA):c.403del (p.Asp135fs) rs2477295096
NM_004168.4(SDHA):c.454G>T (p.Glu152Ter) rs778737664
NM_004168.4(SDHA):c.464del (p.Asn155fs) rs1734986168
NM_004168.4(SDHA):c.46_52dup (p.Leu18fs) rs1560980939
NM_004168.4(SDHA):c.554dup (p.Ala186fs) rs1173940446
NM_004168.4(SDHA):c.55_57delinsCA (p.Ala19fs) rs2477252480
NM_004168.4(SDHA):c.596_599del (p.Ser199fs) rs2477300874
NM_004168.4(SDHA):c.5dup (p.Val4fs) rs2477251404
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) rs876658486
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter) rs775143272
NM_004168.4(SDHA):c.637dup (p.Thr213fs) rs2477315106
NM_004168.4(SDHA):c.649dup (p.Val217fs)
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.722_726del (p.Asp241fs) rs1553998229
NM_004168.4(SDHA):c.777C>G (p.Tyr259Ter) rs140243793
NM_004168.4(SDHA):c.786del (p.Tyr263fs) rs1553998613
NM_004168.4(SDHA):c.83dup (p.Gly29fs) rs1734830402
NM_004168.4(SDHA):c.862C>T (p.Gln288Ter) rs2126568596
NM_004168.4(SDHA):c.870dup (p.Glu291fs) rs2477333326
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) rs1560992565
NM_004168.4(SDHA):c.944dup (p.Gly316fs) rs1579402180
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter) rs370547766
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer) rs886041867
NM_004168.4(SDHA):c.995_996del (p.Pro332fs) rs1560994766
NM_004168.4(SDHA):c.99dup (p.His34fs) rs2477280285
NM_004168.4(SDHA):c.9_10dup (p.Val4fs) rs2126522171

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.