ClinVar Miner

List of variants in gene SDHC reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003001.5(SDHC):c.215G>A (p.Arg72His) rs778582853 0.00001
NM_003001.5(SDHC):c.374T>G (p.Met125Arg) rs1060501387 0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg) rs786203457 0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966 0.00001
NM_003001.5(SDHC):c.405+1G>T rs587776653 0.00001
NM_003001.5(SDHC):c.118del (p.Arg40fs)
NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)
NM_003001.5(SDHC):c.215G>T (p.Arg72Leu) rs778582853
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.5(SDHC):c.233dup (p.Leu78fs) rs1571869304
NM_003001.5(SDHC):c.250_251del (p.Leu84fs) rs2102370242
NM_003001.5(SDHC):c.250_253del (p.Phe85fs) rs1571889991
NM_003001.5(SDHC):c.376_391del (p.Tyr126fs) rs1553265817
NM_003001.5(SDHC):c.376dup (p.Tyr126fs) rs876658301
NM_003001.5(SDHC):c.379C>G (p.His127Asp) rs1485675090
NM_003001.5(SDHC):c.379C>T (p.His127Tyr) rs1485675090
NM_003001.5(SDHC):c.387G>A (p.Trp129Ter) rs981049067
NM_003001.5(SDHC):c.405+1G>C rs587776653
NM_003001.5(SDHC):c.6del (p.Ala3fs) rs786205146
NM_003001.5(SDHC):c.77+2dup rs766486676
NM_003001.5(SDHC):c.97_98dup (p.Ala34fs)

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