ClinVar Miner

List of variants studied for Hereditary Paraganglioma-Pheochromocytoma Syndromes by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 195
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HGVS dbSNP
NC_000001.11:g.161314373C>T
NC_000011.10:g.61430118G>A
NM_001035511.2(SDHC):c.*1052C>T
NM_001035511.2(SDHC):c.*1074G>T
NM_001035511.2(SDHC):c.*1256A>C
NM_001035511.2(SDHC):c.*1543A>C
NM_001035511.2(SDHC):c.*1913A>G
NM_001035511.2(SDHC):c.*2133C>A
NM_001035511.2(SDHC):c.*748C>T
NM_001035511.2(SDHC):c.*763G>C
NM_001035511.2(SDHC):c.*945G>C
NM_003000.2(SDHB):c.*102A>G rs201155896
NM_003000.2(SDHB):c.*133T>C rs111686611
NM_003000.2(SDHB):c.-135G>A rs886045587
NM_003000.2(SDHB):c.-139G>T rs114522228
NM_003000.2(SDHB):c.-142A>G rs886045588
NM_003000.2(SDHB):c.-37T>C rs143031690
NM_003000.2(SDHB):c.113G>A (p.Arg38His) rs143058777
NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) rs34916635
NM_003000.2(SDHB):c.178A>G (p.Thr60Ala) rs34599281
NM_003000.2(SDHB):c.21C>T (p.Leu7=) rs147815442
NM_003000.2(SDHB):c.24C>T (p.Ser8=) rs148738139
NM_003000.2(SDHB):c.299C>G (p.Ser100Cys) rs121917755
NM_003000.2(SDHB):c.344G>A (p.Arg115Gln) rs200973284
NM_003000.2(SDHB):c.395A>G (p.His132Arg) rs74315372
NM_003000.2(SDHB):c.454T>C (p.Ser152Pro) rs886045584
NM_003000.2(SDHB):c.541-3C>T rs751920183
NM_003000.2(SDHB):c.65G>C (p.Cys22Ser) rs141230910
NM_003000.2(SDHB):c.65G>T (p.Cys22Phe) rs141230910
NM_003000.2(SDHB):c.700C>T (p.Leu234=) rs201728852
NM_003000.2(SDHB):c.716C>T (p.Ser239Phe) rs201098090
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.3(SDHB):c.540+8G>T
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003001.3(SDHC):c.*1025G>T rs16832859
NM_003001.3(SDHC):c.*1190T>A rs549554302
NM_003001.3(SDHC):c.*1191A>T rs566186299
NM_003001.3(SDHC):c.*1323G>A rs72714986
NM_003001.3(SDHC):c.*1335A>G rs3935401
NM_003001.3(SDHC):c.*1378T>C rs116141910
NM_003001.3(SDHC):c.*1379C>T rs114731359
NM_003001.3(SDHC):c.*1731G>A rs115718047
NM_003001.3(SDHC):c.*1800G>C rs72714988
NM_003001.3(SDHC):c.*1889T>C rs746551127
NM_003001.3(SDHC):c.*1918G>A rs867593097
NM_003001.3(SDHC):c.*2052C>G rs12239492
NM_003001.3(SDHC):c.*2111C>T rs115166758
NM_003001.3(SDHC):c.*2156A>C rs116668612
NM_003001.3(SDHC):c.*2274G>A rs886045497
NM_003001.3(SDHC):c.*780G>A rs886045483
NM_003001.3(SDHC):c.*863G>A rs570400725
NM_003001.3(SDHC):c.*968A>G rs4600063
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.77+13G>C rs779727693
NM_003001.5(SDHC):c.*115T>G rs886045478
NM_003001.5(SDHC):c.*123C>G rs3813632
NM_003001.5(SDHC):c.*174G>A rs886045479
NM_003001.5(SDHC):c.*247C>G rs540126021
NM_003001.5(SDHC):c.*251C>T rs886045480
NM_003001.5(SDHC):c.*252G>A
NM_003001.5(SDHC):c.*34A>G rs886045477
NM_003001.5(SDHC):c.*385G>A rs8266
NM_003001.5(SDHC):c.*409G>A rs186995249
NM_003001.5(SDHC):c.*469G>A rs148834287
NM_003001.5(SDHC):c.*540A>G
NM_003001.5(SDHC):c.*599A>G
NM_003001.5(SDHC):c.*612C>T rs16865495
NM_003001.5(SDHC):c.*624A>G rs114438179
NM_003001.5(SDHC):c.*632A>G rs886045482
NM_003001.5(SDHC):c.*685C>T rs138085670
NM_003001.5(SDHC):c.*707G>A
NM_003001.5(SDHC):c.*728C>G
NM_003001.5(SDHC):c.*773A>G
NM_003001.5(SDHC):c.*78G>A rs182629842
NM_003001.5(SDHC):c.*84G>C rs201210474
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930
NM_003001.5(SDHC):c.128A>G (p.Asn43Ser) rs747349777
NM_003001.5(SDHC):c.15G>T (p.Leu5Phe) rs771746264
NM_003001.5(SDHC):c.489T>C (p.Ser163=) rs559747670
NM_003001.5(SDHC):c.490A>T (p.Met164Leu) rs200375156
NM_003001.5(SDHC):c.54T>G (p.Phe18Leu) rs200761743
NM_003002.4(SDHD):c.*111A>G
NM_003002.4(SDHD):c.*302A>G rs201163059
NM_003002.4(SDHD):c.*428A>G rs184654032
NM_003002.4(SDHD):c.*587A>G rs886047701
NM_003002.4(SDHD):c.*648A>G rs201560447
NM_003002.4(SDHD):c.*663A>G rs200264243
NM_003002.4(SDHD):c.*669T>C
NM_003002.4(SDHD):c.*71C>A rs886047700
NM_003002.4(SDHD):c.*738T>A rs886047702
NM_003002.4(SDHD):c.*762A>G
NM_003002.4(SDHD):c.*815T>C rs886047703
NM_003002.4(SDHD):c.*93A>G
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu) rs146276662
NM_003002.4(SDHD):c.136G>A (p.Val46Met) rs886047699
NM_003002.4(SDHD):c.174C>T (p.Gly58=)
NM_003002.4(SDHD):c.228C>T (p.Leu76=) rs148634289
NM_003002.4(SDHD):c.281C>G (p.Ser94Cys) rs199754684
NM_003002.4(SDHD):c.445A>G (p.Ile149Val)
NM_003002.4(SDHD):c.53-6C>A
NM_003002.4(SDHD):c.53C>T (p.Ala18Val) rs192332761
NM_003002.4(SDHD):c.80G>A (p.Arg27Lys) rs200671534
NM_004168.4(SDHA):c.*102G>A
NM_004168.4(SDHA):c.*133G>C rs193112615
NM_004168.4(SDHA):c.*179G>A
NM_004168.4(SDHA):c.*189C>T rs185107377
NM_004168.4(SDHA):c.*249T>C
NM_004168.4(SDHA):c.*75A>G rs886060517
NM_004168.4(SDHA):c.-1C>T rs560932680
NM_004168.4(SDHA):c.-2A>T rs763680697
NM_004168.4(SDHA):c.-4A>G rs377134185
NM_004168.4(SDHA):c.-7A>C rs751633537
NM_004168.4(SDHA):c.1002G>A (p.Ala334=) rs144252500
NM_004168.4(SDHA):c.1014G>A (p.Ala338=) rs201341132
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384
NM_004168.4(SDHA):c.1092C>T (p.Val364=) rs886060515
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230
NM_004168.4(SDHA):c.1177G>A (p.Val393Met) rs372989971
NM_004168.4(SDHA):c.1188G>A (p.Thr396=) rs778667374
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890
NM_004168.4(SDHA):c.1527G>A (p.Ser509=) rs746453879
NM_004168.4(SDHA):c.1580G>A (p.Arg527His) rs766352407
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115
NM_004168.4(SDHA):c.1664-8G>A rs199790689
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449
NM_004168.4(SDHA):c.1725G>A (p.Ala575=) rs758252610
NM_004168.4(SDHA):c.1727T>C (p.Leu576Pro) rs1318046349
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960
NM_004168.4(SDHA):c.1908+15C>T rs34504623
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962
NM_004168.4(SDHA):c.1969G>C (p.Val657Leu)
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619
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.1979C>G (p.Ala660Gly) rs191412461
NM_004168.4(SDHA):c.269T>C (p.Val90Ala) rs886060514
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424
NM_004168.4(SDHA):c.403G>A (p.Asp135Asn)
NM_004168.4(SDHA):c.441C>T (p.Pro147=) rs201453889
NM_004168.4(SDHA):c.442G>A (p.Ala148Thr) rs375576259
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004168.4(SDHA):c.558C>T (p.Ala186=) rs199618059
NM_004168.4(SDHA):c.583C>T (p.Arg195Trp)
NM_004168.4(SDHA):c.5C>T (p.Ser2Leu) rs780064103
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693
NM_004168.4(SDHA):c.771-11A>G rs2288461
NM_004168.4(SDHA):c.777C>T (p.Tyr259=) rs140243793
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391
NM_004168.4(SDHA):c.830C>T (p.Thr277Met) rs367721665
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417
NM_004168.4(SDHA):c.895+13G>A rs201461936
NM_004168.4(SDHA):c.896-11G>T
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100
NM_017841.2(SDHAF2):c.*12C>T rs113652589
NM_017841.2(SDHAF2):c.*233C>T rs886048419
NM_017841.2(SDHAF2):c.*377T>C rs17702
NM_017841.2(SDHAF2):c.*378G>A rs7935377
NM_017841.2(SDHAF2):c.*389C>T rs886048420
NM_017841.2(SDHAF2):c.*415A>G rs61132686
NM_017841.2(SDHAF2):c.*446C>G rs886048421
NM_017841.2(SDHAF2):c.*456A>G rs6632
NM_017841.2(SDHAF2):c.*49A>G rs549312009
NM_017841.2(SDHAF2):c.*58G>A rs754124809
NM_017841.2(SDHAF2):c.*669A>G rs747631379
NM_017841.2(SDHAF2):c.*76C>T rs112750991
NM_017841.2(SDHAF2):c.330C>A (p.Asn110Lys) rs779335034
NM_017841.2(SDHAF2):c.36+10G>A rs114207859
NM_017841.2(SDHAF2):c.63A>G (p.Leu21=) rs191513932
NM_017841.2(SDHAF2):c.7G>T (p.Val3Leu) rs149277592
NM_017841.2(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876
NM_017841.4(SDHAF2):c.*284C>T
NM_017841.4(SDHAF2):c.*476C>T
NM_017841.4(SDHAF2):c.*479A>G
NM_017841.4(SDHAF2):c.*657A>G
NM_017841.4(SDHAF2):c.*661A>G
NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val) rs373951663

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