ClinVar Miner

List of variants reported as likely pathogenic for adrenal gland pheochromocytoma by Familial Cancer Clinic,Veneto Institute of Oncology

Included ClinVar conditions (1):
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Total variants: 19
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HGVS dbSNP
NM_017849.3(TMEM127):c.-18C>T rs121908813
NM_017849.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.3(TMEM127):c.149dup (p.Pro51fs) rs121908817
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.245-1G>T rs121908821
NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.409+1G>T rs121908825
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017849.3(TMEM127):c.418T>C (p.Cys140Arg) rs121908827
NM_017849.3(TMEM127):c.419G>A (p.Cys140Tyr) rs121908828
NM_017849.3(TMEM127):c.447G>A (p.Trp149Ter) rs121908829
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.3(TMEM127):c.627_640dup (p.Met214fs) rs121908831
NM_017849.3(TMEM127):c.76C>T (p.Gln26Ter) rs121908815

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