ClinVar Miner

List of variants reported as likely benign for Pheochromocytoma

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ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_020975.5(RET):c.-196C>A rs10900297 0.41632
NM_004168.3(SDHA):c.-115T>C rs2303741 0.25160
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_002382.5(MAX):c.*603C>G rs117802316 0.01457
NM_002382.5(MAX):c.*405G>A rs45440292 0.00825
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_003002.4(SDHD):c.*622A>G rs142510105 0.00694
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_020975.6(RET):c.*1742G>A rs143369221 0.00349
NM_003002.4(SDHD):c.*186A>G rs183918321 0.00317
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_003001.4(SDHC):c.*1693G>A rs191417790 0.00250
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001365951.3(KIF1B):c.-260C>T rs149705989 0.00154
NM_003002.4(SDHD):c.*352C>G rs192900956 0.00137
NM_002382.5(MAX):c.172-6230G>A rs148339628 0.00097
NM_002028.4(FNTB):c.209+1976G>T rs201052112 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_020975.6(RET):c.*84G>A rs558718557 0.00022
NM_002382.5(MAX):c.406G>A (p.Gly136Arg) rs140490467 0.00019
NM_020975.6(RET):c.1063+9G>A rs765463636 0.00014
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238 0.00011
NM_020975.6(RET):c.1353G>T (p.Thr451=) rs201568301 0.00010
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala) rs756465544 0.00004
NM_020975.6(RET):c.718G>C (p.Val240Leu) rs375120544 0.00004
NM_002382.5(MAX):c.*44G>A rs767990726 0.00003
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_002382.5(MAX):c.329A>C (p.Gln110Pro) rs775808138 0.00002
NM_002382.5(MAX):c.397G>A (p.Ala133Thr) rs750459929 0.00002
NM_020975.6(RET):c.1920C>T (p.Ala640=) rs149768519 0.00002
NM_017849.4(TMEM127):c.426C>T (p.Thr142=) rs552787569 0.00001
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=) rs550833832 0.00001
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys) rs140860906 0.00001
NM_017849.4(TMEM127):c.654G>A (p.Glu218=) rs776822044 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_001365951.3(KIF1B):c.*4127dup rs548680591
NM_001365951.3(KIF1B):c.*4279dup rs531640427
NM_001365951.3(KIF1B):c.-26TA[7] rs34063243
NM_002382.5(MAX):c.-126AGTG[4] rs556734672
NM_002382.5(MAX):c.172-6278_172-6277del
NM_004168.3(SDHA):c.-84dup rs35805262
NM_017849.4(TMEM127):c.*2101_*2103del rs3832113
NM_017849.4(TMEM127):c.*2888del rs139762991
NM_017849.4(TMEM127):c.*3200GTT[2] rs141956691
NM_017849.4(TMEM127):c.*674dup rs201871634
NM_017849.4(TMEM127):c.*760del rs371530522
NM_017849.4(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr) rs369144563
NM_020975.6(RET):c.*499dup rs201945709

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