ClinVar Miner

List of variants in gene CWC27 studied for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_005869.4(CWC27):c.1240G>C (p.Glu414Gln) rs139204212 0.00022
NM_005869.4(CWC27):c.1042+5G>A rs373435795 0.00020
NM_005869.4(CWC27):c.920A>T (p.Lys307Met) rs141017155 0.00012
NM_005869.4(CWC27):c.143A>G (p.Tyr48Cys) rs370593428 0.00010
NM_005869.4(CWC27):c.867A>T (p.Leu289Phe) rs140234898 0.00009
NM_005869.4(CWC27):c.1412G>A (p.Arg471Lys) rs779259350 0.00008
NM_005869.4(CWC27):c.973C>T (p.Arg325Trp) rs763896931 0.00008
NM_005869.4(CWC27):c.356G>A (p.Arg119Gln) rs149610828 0.00007
NM_005869.4(CWC27):c.495+4G>C rs371394386 0.00007
NM_005869.4(CWC27):c.275G>A (p.Arg92His) rs568150813 0.00005
NM_005869.4(CWC27):c.304G>A (p.Ala102Thr) rs752677043 0.00004
NM_005869.4(CWC27):c.353G>T (p.Gly118Val) rs199984122 0.00004
NM_005869.4(CWC27):c.1004T>G (p.Val335Gly) rs199774142 0.00003
NM_005869.4(CWC27):c.1006G>A (p.Glu336Lys) rs371261961 0.00003
NM_005869.4(CWC27):c.196G>A (p.Gly66Arg) rs753398778 0.00003
NM_005869.4(CWC27):c.974G>A (p.Arg325Gln) rs751408756 0.00003
NM_005869.4(CWC27):c.1100A>G (p.Tyr367Cys) rs765240687 0.00002
NM_005869.4(CWC27):c.265T>C (p.Ser89Pro) rs138235746 0.00002
NM_005869.4(CWC27):c.1170C>G (p.Asn390Lys) rs1420687442 0.00001
NM_005869.4(CWC27):c.1208C>T (p.Thr403Met) rs769957094 0.00001
NM_005869.4(CWC27):c.1257G>T (p.Trp419Cys) rs960559538 0.00001
NM_005869.4(CWC27):c.175C>T (p.Pro59Ser) rs745426383 0.00001
NM_005869.4(CWC27):c.661G>C (p.Val221Leu) rs1349372664 0.00001
NM_005869.4(CWC27):c.733G>C (p.Val245Leu) rs147540109 0.00001
NM_005869.4(CWC27):c.796A>G (p.Ser266Gly) rs1318855120 0.00001
NM_005869.4(CWC27):c.845G>C (p.Arg282Thr) rs200712636 0.00001
NM_005869.4(CWC27):c.1042G>A (p.Glu348Lys) rs775170127
NM_005869.4(CWC27):c.1401G>C (p.Glu467Asp) rs1238654872
NM_005869.4(CWC27):c.219T>G (p.Ser73Arg) rs1208853313
NM_005869.4(CWC27):c.232A>G (p.Ile78Val)
NM_005869.4(CWC27):c.508C>A (p.Pro170Thr)
NM_005869.4(CWC27):c.517G>C (p.Asp173His) rs1245861359
NM_005869.4(CWC27):c.86G>C (p.Trp29Ser) rs1040435835
NM_005869.4(CWC27):c.878C>G (p.Thr293Arg)

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