ClinVar Miner

List of variants reported as uncertain significance for Cushing syndrome by Mendelics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000244.3(MEN1):c.1180C>T (p.Arg394Trp) rs566593066
NM_000244.3(MEN1):c.1421A>C (p.Glu474Ala) rs1565638407
NM_000244.3(MEN1):c.1558C>T (p.Pro520Ser)
NM_000244.3(MEN1):c.1609G>T (p.Gly537Cys) rs587780843
NM_000244.3(MEN1):c.1633C>T (p.Pro545Ser) rs745404679
NM_000244.3(MEN1):c.1652C>T (p.Pro551Leu) rs779413959
NM_000244.3(MEN1):c.203C>T (p.Ala68Val) rs1319371332
NM_000244.3(MEN1):c.236C>G (p.Pro79Arg) rs1555166557
NM_000244.3(MEN1):c.343C>G (p.Arg115Gly) rs1565651402
NM_000244.3(MEN1):c.409C>T (p.Arg137Trp) rs1208267598
NM_000244.3(MEN1):c.670-6C>G rs77461664
NM_000244.3(MEN1):c.818A>G (p.Tyr273Cys) rs773500082
NM_000546.5(TP53):c.1069A>G (p.Lys357Glu) rs1567541856
NM_000546.5(TP53):c.234_263del (p.Ala79_Ala88del) rs754312472
NM_000546.5(TP53):c.285T>G (p.Ser95=) rs876658696
NM_000546.5(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.5(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.5(TP53):c.320A>G (p.Tyr107Cys) rs587782447
NM_000546.5(TP53):c.417G>T (p.Lys139Asn) rs1567554121
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.623A>G (p.Asp208Gly) rs1464727668
NM_000546.5(TP53):c.642T>G (p.His214Gln) rs587781386
NM_000546.5(TP53):c.66A>G (p.Leu22=) rs748527030
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_000546.5(TP53):c.997C>T (p.Arg333Cys) rs769934890
NM_001126113.2(TP53):c.1028T>A (p.Ile343Lys) rs1567545268

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