ClinVar Miner

List of variants reported as likely pathogenic for Carney complex by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys) rs1555815121
NM_002734.5(PRKAR1A):c.1075C>G (p.Leu359Val) rs2143391287
NM_002734.5(PRKAR1A):c.1142_1145del (p.Val381fs) rs2143392408
NM_002734.5(PRKAR1A):c.441-2A>G
NM_002734.5(PRKAR1A):c.549+1G>A
NM_002734.5(PRKAR1A):c.854A>G (p.Gln285Arg) rs1555814719
NM_002734.5(PRKAR1A):c.891+3A>G rs281864799
NM_002734.5(PRKAR1A):c.892-26_905del rs1568702458

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