ClinVar Miner

List of variants reported as likely pathogenic for Pheochromocytoma

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn) rs121908819 0.00073
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp) rs121908824 0.00006
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_017849.4(TMEM127):c.245-1G>C rs121908821 0.00004
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser) rs121908818 0.00001
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.4(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.4(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.4(VHL):c.588dup (p.Asp197fs) rs864321640
NM_002382.5(MAX):c.55C>T (p.Gln19Ter) rs2139963878
NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg) rs864321639
NM_003000.3(SDHB):c.227T>G (p.Leu76Ter) rs864321638
NM_003000.3(SDHB):c.251A>C (p.Asp84Ala) rs864321637
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser) rs864321636
NM_003002.4(SDHD):c.147dup (p.His50fs) rs876659130
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter) rs878854594
NM_003002.4(SDHD):c.386del (p.Leu129fs) rs864321644
NM_003002.4(SDHD):c.52+2T>G rs587776644
NM_017849.4(TMEM127):c.-18C>T rs121908813
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.4(TMEM127):c.149dup (p.Pro51fs) rs121908817
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
NM_017849.4(TMEM127):c.245-1G>T rs121908821
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.4(TMEM127):c.409+1G>T rs121908825
NM_017849.4(TMEM127):c.410-2A>C rs121908826
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg) rs121908827
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr) rs121908828
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter) rs121908829
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.4(TMEM127):c.627_640dup (p.Met214fs) rs121908831
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter) rs121908815

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