ClinVar Miner

List of variants reported as pathogenic for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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ClinVar version:
Total variants: 102
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HGVS dbSNP
NC_000002.12:g.(?_96253798)_(96265391_?)del
NC_000002.12:g.(?_96253808)_(96265399_?)del
NC_000014.9:g.(?_65093698)_(65102349_?)del
NC_000014.9:g.(?_65093702)_(65102345_?)del
NC_000014.9:g.(?_65101536)_(65102349_?)del
NC_000014.9:g.(?_65101546)_(65102544_?)del
NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_002382.5(MAX):c.120del (p.Asp41fs) rs1595166895
NM_002382.5(MAX):c.211_221del (p.Ile71fs) rs1060500101
NM_002382.5(MAX):c.219T>A (p.Tyr73Ter) rs1193255946
NM_002382.5(MAX):c.223C>T (p.Arg75Ter) rs387906650
NM_002382.5(MAX):c.228del (p.Asn78fs) rs1555340550
NM_002382.5(MAX):c.236_237AC[5] (p.Gln82fs)
NM_002382.5(MAX):c.295+2_295+3del
NM_002382.5(MAX):c.97C>T (p.Arg33Ter) rs387906651
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.183T>G (p.Tyr61Ter) rs760169139
NM_003000.2(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.1_72del (p.Met1_Gln24del) rs1553179313
NM_003000.2(SDHB):c.1_843del
NM_003000.2(SDHB):c.26T>A (p.Leu9Ter) rs786203800
NM_003000.2(SDHB):c.271A>T (p.Arg91Ter) rs878854575
NM_003000.2(SDHB):c.274T>C (p.Ser92Pro) rs1553178041
NM_003000.2(SDHB):c.275C>A (p.Ser92Ter) rs1553178040
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.287_540del
NM_003000.2(SDHB):c.329_330CT[1] (p.Leu111fs) rs1060503751
NM_003000.2(SDHB):c.369_370insA (p.Val124fs) rs1553177742
NM_003000.2(SDHB):c.392del (p.Pro131fs) rs1553177739
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.423+1G>A rs398122805
NM_003000.2(SDHB):c.445_447delinsGGTATCT (p.Gln149fs) rs1553177687
NM_003000.2(SDHB):c.490C>T (p.Gln164Ter) rs1553177679
NM_003000.2(SDHB):c.523_527delinsAAGG (p.Glu175fs) rs1553177672
NM_003000.2(SDHB):c.526G>T (p.Glu176Ter) rs794728946
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003000.2(SDHB):c.553G>T (p.Glu185Ter) rs1045881797
NM_003000.2(SDHB):c.587G>A (p.Cys196Tyr) rs876658367
NM_003000.2(SDHB):c.600G>T (p.Trp200Cys) rs397516836
NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.2(SDHB):c.642+1G>A rs1131691052
NM_003000.2(SDHB):c.683_684delAG rs762812025
NM_003000.2(SDHB):c.688C>T (p.Arg230Cys) rs138996609
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.2(SDHB):c.72+1G>T rs587782703
NM_003000.2(SDHB):c.725G>A (p.Arg242His) rs74315368
NM_003000.2(SDHB):c.73-9A>G rs1553178757
NM_003000.2(SDHB):c.736A>T (p.Ile246Phe) rs146800605
NM_003000.2(SDHB):c.761dup (p.Pro254_Lys255insTer) rs34309090
NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) rs74315369
NM_003000.2(SDHB):c.80G>A (p.Arg27Gln) rs373976827
NM_003000.2(SDHB):c.88del (p.Gln30fs) rs747198089
NM_003000.2:c.73_846del
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys) rs898854295
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966
NM_003001.5(SDHC):c.407_*1del (p.Met136_Ter170delinsXaa) rs1553266474
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421
NM_003002.3:c.1_169del
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.170-1G>T rs1306475361
NM_003002.4(SDHD):c.209G>A (p.Arg70Lys) rs755047928
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro) rs80338846
NM_003002.4(SDHD):c.314+1G>A rs1555187083
NM_003002.4(SDHD):c.315_480del (p.Trp105fs) rs1555187570
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003002.4(SDHD):c.381del (p.Leu128fs) rs1555187601
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro) rs80338847
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_017841.2(SDHAF2):c.177dup (p.Asp60Ter) rs1554984631
NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) rs113560320
NM_017841.2(SDHAF2):c.305_306insA (p.Asn103fs) rs753554501
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076
NM_017841.4(SDHAF2):c.199del (p.Arg67fs)
NM_017849.3(TMEM127):c.-131-?_*3600del
NM_017849.3(TMEM127):c.124_125del (p.Thr42fs) rs1553437737
NM_017849.3(TMEM127):c.158G>A (p.Trp53Ter) rs121908818
NM_017849.3(TMEM127):c.245-1G>C rs121908821
NM_017849.3(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.3(TMEM127):c.283del (p.Val95fs) rs1553437028
NM_017849.3(TMEM127):c.337del (p.Leu113fs) rs1558752468
NM_017849.3(TMEM127):c.397del (p.His133fs) rs1558752379
NM_017849.3(TMEM127):c.3G>A (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.464T>A (p.Leu155Ter) rs886039439
NM_017849.3(TMEM127):c.469C>T (p.Gln157Ter) rs780133289
NM_017849.3(TMEM127):c.7del (p.Ala3fs) rs1558756727
NM_017849.4(TMEM127):c.2T>G (p.Met1Arg)
NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter)
NM_017849.4(TMEM127):c.383dup (p.Tyr129fs)
NM_017849.4(TMEM127):c.530del (p.Phe177fs)
NM_017849.4(TMEM127):c.542_554del (p.Ala181fs)

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