ClinVar Miner

List of variants studied for adrenal gland disease by CSER_CC_NCGL; University of Washington Medical Center

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000546.5(TP53):c.455C>T (p.Pro152Leu) rs587782705
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000551.3(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.3(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_002734.4(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303
NM_003000.2(SDHB):c.299C>G (p.Ser100Cys) rs121917755
NM_003000.2(SDHB):c.716C>G (p.Ser239Cys) rs201098090
NM_003000.2(SDHB):c.79C>G (p.Arg27Gly) rs74315369
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003001.3(SDHC):c.8C>T (p.Ala3Val) rs142139022
NM_003002.4(SDHD):c.158C>T (p.Pro53Leu) rs149516118
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105

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