ClinVar Miner

List of variants reported as pathogenic for endocrine gland neoplasm by Color Diagnostics, LLC DBA Color Health

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter) rs74315370 0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421 0.00002
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076 0.00002
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_001370259.2(MEN1):c.1350+1_1350+11del rs764570645
NM_003000.3(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser) rs786203251
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr) rs786201085
NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) rs1336819076
NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter) rs750979204
NM_020975.6(RET):c.2410G>T (p.Val804Leu) rs79658334

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