ClinVar Miner

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

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Total variants: 38
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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_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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