ClinVar Miner

List of variants reported as likely benign for Hereditary Paraganglioma-Pheochromocytoma Syndromes by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP
NM_002382.5(MAX):c.102A>G (p.Lys34=) rs1060503836
NM_002382.5(MAX):c.177C>G (p.Ser59=) rs781103630
NM_002382.5(MAX):c.21C>A (p.Ile7=) rs760248675
NM_002382.5(MAX):c.258C>T (p.Asp86=) rs780385213
NM_002382.5(MAX):c.279T>C (p.Ala93=) rs145370107
NM_002382.5(MAX):c.295+10C>T rs375446224
NM_002382.5(MAX):c.295+8C>G rs754409025
NM_002382.5(MAX):c.351C>T (p.Ser117=) rs1555340215
NM_002382.5(MAX):c.36+10G>C rs1421908769
NM_002382.5(MAX):c.36+9T>C rs774467253
NM_002382.5(MAX):c.37-4C>T rs747811786
NM_002382.5(MAX):c.375C>T (p.Asn125=) rs370238588
NM_002382.5(MAX):c.384C>A (p.Gly128=) rs1555340201
NM_002382.5(MAX):c.402C>T (p.Phe134=) rs765370870
NM_002382.5(MAX):c.426G>A (p.Ser142=) rs145787299
NM_002382.5(MAX):c.432T>A (p.Ser144=) rs1485899939
NM_002382.5(MAX):c.462G>A (p.Lys154=) rs1203172320
NM_002382.5(MAX):c.57A>G (p.Gln19=) rs1395966308
NM_002382.5(MAX):c.63+8T>C rs776724315
NM_002382.5(MAX):c.6C>T (p.Ser2=) rs138539686
NM_002382.5(MAX):c.87T>C (p.Asn29=) rs771488967
NM_017841.2(SDHAF2):c.153T>G (p.Pro51=) rs769950627
NM_017841.2(SDHAF2):c.156G>A (p.Leu52=) rs773466310
NM_017841.2(SDHAF2):c.15A>G (p.Thr5=) rs144511254
NM_017841.2(SDHAF2):c.21C>T (p.Phe7=) rs892955355
NM_017841.2(SDHAF2):c.240G>A (p.Leu80=) rs1223446048
NM_017841.2(SDHAF2):c.24G>A (p.Ser8=) rs764251580
NM_017841.2(SDHAF2):c.264T>G (p.Leu88=) rs1554984669
NM_017841.2(SDHAF2):c.294A>G (p.Thr98=) rs762441285
NM_017841.2(SDHAF2):c.319C>T (p.Arg107Cys) rs140191819
NM_017841.2(SDHAF2):c.320G>A (p.Arg107His) rs535627239
NM_017841.2(SDHAF2):c.327T>A (p.Ile109=) rs757670376
NM_017841.2(SDHAF2):c.32C>T (p.Ser11Leu) rs148425779
NM_017841.2(SDHAF2):c.360C>T (p.Tyr120=) rs1328610836
NM_017841.2(SDHAF2):c.37-7A>G rs1554984610
NM_017841.2(SDHAF2):c.370+8G>C rs764742919
NM_017841.2(SDHAF2):c.453G>A (p.Gln151=) rs1271900425
NM_017841.2(SDHAF2):c.465C>T (p.Ala155=) rs758154733
NM_017841.2(SDHAF2):c.6G>A (p.Ala2=) rs747571875
NM_017841.2(SDHAF2):c.6G>T (p.Ala2=) rs747571875
NM_017841.2(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876
NM_017841.4(SDHAF2):c.260+10T>C rs1590764949
NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val) rs373951663
NM_017841.4(SDHAF2):c.321C>T (p.Arg107=) rs754291669
NM_017841.4(SDHAF2):c.370+7G>C rs1590765180
NM_017841.4(SDHAF2):c.387A>G (p.Pro129=) rs770383127
NM_017849.3(TMEM127):c.102C>T (p.Ala34=) rs781643869
NM_017849.3(TMEM127):c.12C>T (p.Pro4=) rs1406470818
NM_017849.3(TMEM127):c.136A>G (p.Thr46Ala) rs144659242
NM_017849.3(TMEM127):c.210C>T (p.Asp70=) rs1553437721
NM_017849.3(TMEM127):c.213G>A (p.Val71=) rs777169152
NM_017849.3(TMEM127):c.267A>G (p.Thr89=) rs773384410
NM_017849.3(TMEM127):c.270G>T (p.Val90=) rs748896126
NM_017849.3(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.3(TMEM127):c.313C>T (p.Leu105=) rs754465684
NM_017849.3(TMEM127):c.324C>T (p.Leu108=) rs148381232
NM_017849.3(TMEM127):c.330T>C (p.Ala110=) rs1157106593
NM_017849.3(TMEM127):c.384C>T (p.Arg128=) rs755188175
NM_017849.3(TMEM127):c.393C>T (p.Phe131=) rs756680897
NM_017849.3(TMEM127):c.394G>A (p.Ala132Thr) rs750870974
NM_017849.3(TMEM127):c.402C>A (p.Ile134=) rs1553436974
NM_017849.3(TMEM127):c.411T>A (p.Val137=) rs760099422
NM_017849.3(TMEM127):c.426C>T (p.Thr142=) rs552787569
NM_017849.3(TMEM127):c.519C>T (p.Phe173=) rs758676810
NM_017849.3(TMEM127):c.522C>T (p.Ala174=) rs367951215
NM_017849.3(TMEM127):c.573G>A (p.Thr191=) rs147816248
NM_017849.3(TMEM127):c.651C>T (p.Asn217=) rs759801591
NM_017849.3(TMEM127):c.663G>A (p.Pro221=) rs377760956
NM_017849.3(TMEM127):c.666G>A (p.Ala222=) rs772481029
NM_017849.3(TMEM127):c.672T>C (p.Tyr224=) rs201935270
NM_017849.3(TMEM127):c.81G>A (p.Pro27=) rs1553437743
NM_017849.4(TMEM127):c.196C>T (p.Leu66=) rs1211097710
NM_017849.4(TMEM127):c.214T>C (p.Leu72=) rs1573977624
NM_017849.4(TMEM127):c.327C>T (p.Ser109=) rs773650718
NM_017849.4(TMEM127):c.354G>A (p.Pro118=) rs1392614291
NM_017849.4(TMEM127):c.39C>T (p.Arg13=) rs1060503975
NM_017849.4(TMEM127):c.409+9T>C rs1573970006
NM_017849.4(TMEM127):c.410-7C>T rs375440877
NM_017849.4(TMEM127):c.444T>C (p.Tyr148=) rs768545721
NM_017849.4(TMEM127):c.468C>A (p.Ala156=) rs749579854
NM_017849.4(TMEM127):c.507C>A (p.Val169=) rs1573969264
NM_017849.4(TMEM127):c.636A>G (p.Ser212=) rs1573969010
NM_017849.4(TMEM127):c.67C>T (p.Leu23=) rs749807415

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.