ClinVar Miner

List of variants reported as benign for Cushing syndrome by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_000244.3(MEN1):c.-22C>A rs374749001
NM_000244.3(MEN1):c.1018C>A (p.Arg340=) rs371364206
NM_000244.3(MEN1):c.1064+9C>T rs200517349
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1227C>G (p.Leu409=) rs577268289
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1314C>T (p.His438=) rs540012
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1449C>T (p.Gly483=) rs200280309
NM_000244.3(MEN1):c.1523G>A (p.Gly508Asp) rs375804228
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
NM_000244.3(MEN1):c.1653G>A (p.Pro551=) rs368783097
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.606C>G (p.Thr202=) rs527294715
NM_000244.3(MEN1):c.612C>T (p.His204=) rs150512958
NM_000244.3(MEN1):c.670-11dup rs772016629
NM_000244.3(MEN1):c.670-6C>T rs77461664
NM_000244.3(MEN1):c.774G>A (p.Ser258=) rs201829546
NM_000546.5(TP53):c.108G>A (p.Pro36=) rs1800370
NM_000546.5(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.5(TP53):c.141G>A (p.Pro47=) rs201741778
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.560-8G>C rs373797299
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.5(TP53):c.673-36G>C rs17880604
NM_000546.5(TP53):c.903A>G (p.Pro301=) rs72661120
NM_000546.5(TP53):c.97-6C>T rs35117667
NM_002734.4(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241
NM_002734.4(PRKAR1A):c.156A>G (p.Glu52=) rs141432364
NM_002734.4(PRKAR1A):c.204G>A (p.Leu68=) rs74863634
NM_002734.4(PRKAR1A):c.489T>C (p.Thr163=) rs143672551
NM_002734.4(PRKAR1A):c.678C>T (p.Ile226=) rs200592054
NM_002734.4(PRKAR1A):c.770-9G>T rs562094333
NM_002734.4(PRKAR1A):c.87G>A (p.Ala29=) rs3730349

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