ClinVar Miner

List of variants reported as uncertain significance for Acrodysostosis 1 with or without hormone resistance by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.*2197G>A rs533508012 0.00058
NM_002734.5(PRKAR1A):c.-16C>A rs886053305 0.00057
NM_002734.5(PRKAR1A):c.*893G>C rs186568426 0.00049
NM_002734.5(PRKAR1A):c.*722A>G rs555951287 0.00033
NM_002734.5(PRKAR1A):c.-25C>T rs546338099 0.00026
NM_002734.5(PRKAR1A):c.*1687T>C rs986574420 0.00024
NM_002734.5(PRKAR1A):c.*1346A>G rs545417998 0.00021
NM_002734.5(PRKAR1A):c.*233C>T rs531560526 0.00021
NM_002734.5(PRKAR1A):c.*384C>T rs142203044 0.00021
NM_002734.5(PRKAR1A):c.*724T>A rs746409603 0.00015
NM_002734.5(PRKAR1A):c.*2196C>T rs886053320 0.00014
NM_002734.5(PRKAR1A):c.*1014A>G rs886053311 0.00013
NM_002734.5(PRKAR1A):c.*1062A>G rs752303671 0.00007
NM_002734.5(PRKAR1A):c.*331G>A rs1001484586 0.00007
NM_002734.5(PRKAR1A):c.*156C>T rs535007635 0.00006
NM_002734.5(PRKAR1A):c.*1085G>A rs994798970 0.00004
NM_002734.5(PRKAR1A):c.*2940G>A rs2086029597 0.00004
NM_002734.5(PRKAR1A):c.*1487C>T rs886053314 0.00003
NM_002734.5(PRKAR1A):c.*299T>G rs569225886 0.00003
NM_002734.5(PRKAR1A):c.*526G>A rs886053308 0.00001
NM_002734.5(PRKAR1A):c.*535T>G rs1329748321 0.00001
NM_002734.5(PRKAR1A):c.-11C>T rs1021510770 0.00001
NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys) rs1467886544 0.00001
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) rs746113372 0.00001
NM_001276290.1(PRKAR1A):c.973+3439G>T rs2086031493
NM_002734.5(PRKAR1A):c.*1003C>T rs2085973222
NM_002734.5(PRKAR1A):c.*1111C>G rs2085976100
NM_002734.5(PRKAR1A):c.*1168A>T rs886053313
NM_002734.5(PRKAR1A):c.*1640C>T rs2085991084
NM_002734.5(PRKAR1A):c.*1838A>T rs2085997664
NM_002734.5(PRKAR1A):c.*1839G>A rs886053316
NM_002734.5(PRKAR1A):c.*1842A>T rs886053317
NM_002734.5(PRKAR1A):c.*1949G>T rs1600501089
NM_002734.5(PRKAR1A):c.*2018C>T rs540185706
NM_002734.5(PRKAR1A):c.*2067T>C rs886053318
NM_002734.5(PRKAR1A):c.*2072G>A rs886053319
NM_002734.5(PRKAR1A):c.*2089A>G rs577964161
NM_002734.5(PRKAR1A):c.*2114G>A rs573817614
NM_002734.5(PRKAR1A):c.*2152T>C rs2086006345
NM_002734.5(PRKAR1A):c.*389T>G rs886053307
NM_002734.5(PRKAR1A):c.*560G>A rs1029548849
NM_002734.5(PRKAR1A):c.*609C>G rs1307801222
NM_002734.5(PRKAR1A):c.*704T>G rs886053310
NM_002734.5(PRKAR1A):c.*812A>G rs116996069
NM_002734.5(PRKAR1A):c.331G>A (p.Ala111Thr) rs1472324247
NM_002734.5(PRKAR1A):c.770-8T>G rs182841147
NM_212472.2(PRKAR1A):c.-200T>A rs534001445

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