ClinVar Miner

List of variants reported as pathogenic for Carney complex by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NC_000017.10:g.(?_66508520)_(66526600_?)del
NC_000017.10:g.(?_66511525)_(66525142_?)del
NC_000017.10:g.(?_66511535)_(66526596_?)del
NM_002734.4(PRKAR1A):c.177+1G>A rs1555811753
NM_002734.4(PRKAR1A):c.286C>T (p.Arg96Ter) rs281864783
NM_002734.4(PRKAR1A):c.289C>T (p.Arg97Ter) rs1555813217
NM_002734.4(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.4(PRKAR1A):c.502+1G>A rs1555813578
NM_002734.4(PRKAR1A):c.660_661TG[1] (p.Val221fs) rs1568698487
NM_002734.4(PRKAR1A):c.671G>A (p.Trp224Ter) rs1568698504
NM_002734.4(PRKAR1A):c.764_768del (p.Ile255fs) rs1555814477
NM_002734.4(PRKAR1A):c.812dup (p.Leu271fs) rs1568701362

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