ClinVar Miner

List of variants in gene SDHA reported as pathogenic for Paragangliomas 5

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter) rs746165168 0.00001
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter) rs151170408 0.00001
NM_004168.4(SDHA):c.1338del (p.His447fs) rs1735791499 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter) rs1579407009
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1473del (p.Glu491fs)
NM_004168.4(SDHA):c.1579del (p.Arg527fs) rs1579437839
NM_004168.4(SDHA):c.1615dup (p.Ile539fs) rs1554001843
NM_004168.4(SDHA):c.1665_1670delinsTCCC (p.Met556fs)
NM_004168.4(SDHA):c.1A>C (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer) rs2126542910
NM_004168.4(SDHA):c.244G>T (p.Glu82Ter)
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.324dup (p.Ala109fs)
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter) rs1734957331
NM_004168.4(SDHA):c.403del (p.Asp135fs)
NM_004168.4(SDHA):c.55_57delinsCA (p.Ala19fs)
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter) rs876658486
NM_004168.4(SDHA):c.637dup (p.Thr213fs)
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004168.4(SDHA):c.722_726del (p.Asp241fs) rs1553998229
NM_004168.4(SDHA):c.777C>G (p.Tyr259Ter)
NM_004168.4(SDHA):c.786del (p.Tyr263fs) rs1553998613
NM_004168.4(SDHA):c.870dup (p.Glu291fs)
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter) rs1560992565
NM_004168.4(SDHA):c.897_1260+1del
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer) rs886041867
NM_004168.4(SDHA):c.995_996del (p.Pro332fs) rs1560994766
NM_004168.4(SDHA):c.99dup (p.His34fs)

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