ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial complex II deficiency; Paragangliomas 5 by Invitae

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Total variants: 14
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HGVS dbSNP
NM_004168.4(SDHA):c.1064+1G>T
NM_004168.4(SDHA):c.1261-2A>G
NM_004168.4(SDHA):c.1432+1G>C rs878854628
NM_004168.4(SDHA):c.1432_1432+1del rs878854627
NM_004168.4(SDHA):c.150+1G>A rs1057523165
NM_004168.4(SDHA):c.1663+1G>T rs766667009
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517
NM_004168.4(SDHA):c.2T>A (p.Met1Lys) rs750380279
NM_004168.4(SDHA):c.2T>C (p.Met1Thr) rs750380279
NM_004168.4(SDHA):c.2T>G (p.Met1Arg) rs750380279
NM_004168.4(SDHA):c.457-2_457del rs878854632
NM_004168.4(SDHA):c.622-1G>A rs1285132774
NM_004168.4(SDHA):c.63+2del

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