ClinVar Miner

List of variants in gene CWC27 reported as pathogenic for not provided

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005869.4(CWC27):c.495G>A (p.Glu165=) rs1085307446 0.00003
NM_005869.4(CWC27):c.1156dup (p.Leu386fs) rs1372091680 0.00002
NM_005869.4(CWC27):c.427C>T (p.Arg143Ter) rs773382223 0.00001
NC_000005.9:g.(?_64064974)_(64100233_?)del
NC_000005.9:g.(?_64064974)_(64181393_?)del
NC_000005.9:g.(?_64077728)_(64096174_?)del
NC_000005.9:g.(?_64096055)_(64100233_?)del
NM_005869.4(CWC27):c.1002del (p.Lys334_Val335insTer) rs752159903
NM_005869.4(CWC27):c.1002dup (p.Val335fs) rs752159903
NM_005869.4(CWC27):c.1033dup (p.Arg345fs) rs1259976736
NM_005869.4(CWC27):c.1066_1070del (p.Ala356fs) rs2112442370
NM_005869.4(CWC27):c.1101T>G (p.Tyr367Ter) rs927473472
NM_005869.4(CWC27):c.1120C>T (p.Gln374Ter)
NM_005869.4(CWC27):c.1156del (p.Ala387fs) rs1372091680
NM_005869.4(CWC27):c.120dup (p.Ile41fs)
NM_005869.4(CWC27):c.225dup (p.Glu76fs) rs2112161191
NM_005869.4(CWC27):c.326del (p.Asn109fs)
NM_005869.4(CWC27):c.355C>T (p.Arg119Ter)
NM_005869.4(CWC27):c.606del (p.Phe202fs) rs777801764
NM_005869.4(CWC27):c.666_669del (p.Ser222fs) rs1743983240
NM_005869.4(CWC27):c.676A>T (p.Lys226Ter)
NM_005869.4(CWC27):c.756del (p.Gly253fs) rs2112207891
NM_005869.4(CWC27):c.77_78del (p.Ile26fs) rs1743380522
NM_005869.4(CWC27):c.829G>T (p.Glu277Ter)
NM_005869.4(CWC27):c.922A>T (p.Lys308Ter)
NM_005869.4(CWC27):c.926C>G (p.Ser309Ter) rs2112214898
NM_005869.4(CWC27):c.94G>T (p.Glu32Ter) rs922927440
NM_005869.4(CWC27):c.994del (p.Gln332fs) rs2112343388

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