ClinVar Miner

List of variants reported as likely pathogenic for Gastrointestinal stromal tumor; Paragangliomas 3 by Invitae

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003001.5(SDHC):c.160C>A (p.Pro54Thr) rs1553262444
NM_003001.5(SDHC):c.171_179+15del rs1671156558
NM_003001.5(SDHC):c.179+1G>C rs1057517818
NM_003001.5(SDHC):c.179+1G>T rs1057517818
NM_003001.5(SDHC):c.180-2A>G rs1363265634
NM_003001.5(SDHC):c.20+1G>T rs1249046874
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) rs786205147
NM_003001.5(SDHC):c.2T>G (p.Met1Arg) rs1670517782
NM_003001.5(SDHC):c.379C>A (p.His127Asn) rs1485675090
NM_003001.5(SDHC):c.405+1del rs1558182956
NM_003001.5(SDHC):c.77+1G>A rs1558164647
NM_003001.5(SDHC):c.78-1G>T rs786202200

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