ClinVar Miner

List of variants reported as uncertain significance for adrenal gland neoplasm by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_003002.4(SDHD):c.101T>G (p.Phe34Cys) rs141802836 0.00016
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389 0.00013
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val) rs373951977 0.00012
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530 0.00011
NM_017841.4(SDHAF2):c.7G>T (p.Val3Leu) rs149277592 0.00010
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_017841.4(SDHAF2):c.476A>C (p.Glu159Ala) rs140920079 0.00009
NM_001365951.3(KIF1B):c.215G>A (p.Arg72His) rs761343609 0.00008
NM_004168.4(SDHA):c.453C>A (p.Val151=) rs138917116 0.00006
NM_001365951.3(KIF1B):c.2115+6545C>A rs1299989581 0.00004
NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys) rs763122049 0.00004
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356 0.00004
NM_017841.4(SDHAF2):c.205C>T (p.Arg69Cys) rs532255760 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly) rs775692548 0.00003
NM_004168.4(SDHA):c.512G>A (p.Arg171His) rs587782076 0.00003
NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His) rs768058092 0.00002
NM_004168.4(SDHA):c.1136G>A (p.Arg379His) rs770719847 0.00002
NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser) rs1452142786 0.00002
NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu) rs1269940164 0.00001
NM_001365951.3(KIF1B):c.2115+6476T>C rs764466176 0.00001
NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val) rs773852256 0.00001
NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg) rs1011009249 0.00001
NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys) rs754479325 0.00001
NM_003001.5(SDHC):c.436C>A (p.Pro146Thr) rs541660851 0.00001
NM_003002.4(SDHD):c.331G>A (p.Val111Ile) rs201869798 0.00001
NM_004168.4(SDHA):c.1234G>A (p.Gly412Ser) rs768055345 0.00001
NM_004168.4(SDHA):c.1717C>G (p.Leu573Val) rs1445945083 0.00001
NM_001365951.3(KIF1B):c.2115+6012C>G
NM_001365951.3(KIF1B):c.2115+7115C>A
NM_001365951.3(KIF1B):c.2115+7270G>A
NM_001365951.3(KIF1B):c.2115+7343G>A
NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys) rs2102315795
NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)
NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)
NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)
NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser) rs966793401
NM_002382.5(MAX):c.172-6166A>G
NM_002382.5(MAX):c.269G>A (p.Arg90Gln) rs876659562
NM_002382.5(MAX):c.34G>T (p.Asp12Tyr) rs2063874476
NM_003000.3(SDHB):c.716C>T (p.Ser239Phe) rs201098090
NM_004168.4(SDHA):c.406C>G (p.Gln136Glu) rs1365359024
NM_004168.4(SDHA):c.996_998delinsCAC (p.Val333Thr) rs1057517540
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876

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