ClinVar Miner

List of variants in gene PRKCG reported as uncertain significance for Inborn genetic diseases

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002739.5(PRKCG):c.1738C>T (p.Arg580Trp) rs149266855 0.00009
NM_002739.5(PRKCG):c.1871G>A (p.Arg624Gln) rs146367309 0.00007
NM_002739.5(PRKCG):c.1730C>T (p.Ser577Leu) rs551805527 0.00006
NM_002739.5(PRKCG):c.1843C>T (p.Arg615Cys) rs368825946 0.00005
NM_002739.5(PRKCG):c.1529C>A (p.Thr510Lys) rs749199519 0.00004
NM_002739.5(PRKCG):c.283G>A (p.Asp95Asn) rs1402720098 0.00002
NM_002739.5(PRKCG):c.1201C>T (p.Arg401Cys) rs1367827846 0.00001
NM_002739.5(PRKCG):c.1034G>T (p.Arg345Leu)
NM_002739.5(PRKCG):c.1214T>G (p.Leu405Arg)
NM_002739.5(PRKCG):c.1654C>G (p.Gln552Glu)
NM_002739.5(PRKCG):c.1706A>G (p.Glu569Gly) rs1461447265
NM_002739.5(PRKCG):c.1728G>C (p.Lys576Asn) rs79609076
NM_002739.5(PRKCG):c.1918G>T (p.Gly640Cys)
NM_002739.5(PRKCG):c.1976G>A (p.Arg659His)
NM_002739.5(PRKCG):c.2081T>C (p.Val694Ala)
NM_002739.5(PRKCG):c.335C>T (p.Thr112Ile)
NM_002739.5(PRKCG):c.41G>A (p.Gly14Glu)
NM_002739.5(PRKCG):c.628C>G (p.Gln210Glu)
NM_002739.5(PRKCG):c.812T>C (p.Val271Ala)

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