ClinVar Miner

List of variants reported as uncertain significance for adrenal gland disease by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000551.3(VHL):c.188T>A (p.Leu63Gln) rs104893827
NM_000551.3(VHL):c.201C>A (p.Asn67Lys) rs769658318
NM_000551.3(VHL):c.203C>T (p.Ser68Leu) rs869025617
NM_000551.3(VHL):c.221T>A (p.Val74Asp) rs5030803
NM_000551.3(VHL):c.224T>G (p.Ile75Ser) rs1064794271
NM_000551.3(VHL):c.227T>A (p.Phe76Tyr) rs730882033
NM_000551.3(VHL):c.227T>C (p.Phe76Ser) rs730882033
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.3(VHL):c.278G>T (p.Gly93Val) rs1553619440
NM_000551.3(VHL):c.287A>C (p.Gln96Pro) rs1559426089
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.332G>T (p.Ser111Ile) rs869025631
NM_000551.3(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.3(VHL):c.341-3T>G rs1131690965
NM_000551.3(VHL):c.376G>A (p.Asp126Asn) rs104893831
NM_000551.3(VHL):c.386T>C (p.Leu129Pro) rs1559428119
NM_000551.3(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.3(VHL):c.407T>G (p.Phe136Cys) rs5030833
NM_000551.3(VHL):c.429C>G (p.Asp143Glu) rs773556807
NM_000551.3(VHL):c.445G>C (p.Ala149Pro) rs587780077
NM_000551.3(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.3(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.3(VHL):c.483_500dup (p.Cys162_Arg167dup) rs1553620312
NM_000551.3(VHL):c.490C>G (p.Gln164Glu) rs5030819
NM_000551.3(VHL):c.497T>G (p.Val166Gly) rs397516445
NM_000551.3(VHL):c.539T>G (p.Ile180Ser) rs1559429750
NM_000551.3(VHL):c.540_543del (p.Val181fs) rs869025664
NM_000551.3(VHL):c.546del (p.Arg182fs) rs869025665
NM_000551.3(VHL):c.554A>G (p.Tyr185Cys) rs561874453
NM_000551.3(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.3(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.3(VHL):c.585_606dup (p.Gln203fs) rs1559429876
NM_003002.4(SDHD):c.118A>C (p.Ile40Leu) rs146276662

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