ClinVar Miner

List of variants in gene PRKAR1A reported as benign for mandibulofacial dysostosis

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.770-24G>A rs2302230 0.73571
NM_002734.5(PRKAR1A):c.892-34G>T rs2302231 0.71288
NM_002734.5(PRKAR1A):c.*1244T>C rs9925 0.22809
NM_002734.5(PRKAR1A):c.*1777C>T rs7977 0.22564
NM_002734.5(PRKAR1A):c.*870G>A rs8082254 0.14031
NM_002734.5(PRKAR1A):c.*1212T>G rs8905 0.13021
NM_002734.5(PRKAR1A):c.*795G>T rs150031305 0.00544
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_002734.5(PRKAR1A):c.*2844A>C rs144560276 0.00147
NM_002734.5(PRKAR1A):c.*1057G>A rs373618236 0.00085
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=) rs200592054 0.00026
NM_002734.5(PRKAR1A):c.*1606A>G rs144632545 0.00013
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=) rs141432364 0.00012
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=) rs117639566 0.00004
NM_002734.5(PRKAR1A):c.*2188C>G rs6958
NM_002734.5(PRKAR1A):c.*2212C>T rs545517617
NM_002734.5(PRKAR1A):c.*587dup rs398041821
NM_002734.5(PRKAR1A):c.*672T>C rs546125048
NM_002734.5(PRKAR1A):c.-75G>T rs559757120
NM_002734.5(PRKAR1A):c.349-5dup rs3841514
NM_002734.5(PRKAR1A):c.440+15T>C rs78183210
NM_002734.5(PRKAR1A):c.770-9G>T rs562094333
NM_002734.5(PRKAR1A):c.998G>A (p.Arg333His) rs2143389718

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