ClinVar Miner

List of variants in gene RNF43 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_017763.6(RNF43):c.2261G>C (p.Gly754Ala) rs115553539 0.00733
NM_017763.6(RNF43):c.1010G>A (p.Arg337Gln) rs138844366 0.00248
NM_017763.6(RNF43):c.380G>A (p.Arg127Gln) rs35219874 0.00220
NM_017763.6(RNF43):c.1093G>A (p.Ala365Thr) rs79309393 0.00135
NM_017763.6(RNF43):c.1131A>T (p.Pro377=) rs367829905 0.00084
NM_017763.6(RNF43):c.1825C>T (p.Arg609Trp) rs139405076 0.00075
NM_017763.6(RNF43):c.597G>A (p.Val199=) rs77499318 0.00058
NM_017763.6(RNF43):c.1884C>T (p.Asp628=) rs146366849 0.00055
NM_017763.6(RNF43):c.2091C>T (p.His697=) rs199916345 0.00049
NM_017763.6(RNF43):c.319G>A (p.Val107Ile) rs199909371 0.00049
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu) rs139557480 0.00046
NM_017763.6(RNF43):c.837C>T (p.Phe279=) rs141997049 0.00044
NM_017763.6(RNF43):c.2054C>A (p.Thr685Asn) rs34464652 0.00038
NM_017763.6(RNF43):c.1302C>T (p.Pro434=) rs201383492 0.00012
NM_017763.6(RNF43):c.434G>A (p.Arg145Gln) rs151209912 0.00010
NM_017763.6(RNF43):c.1449G>A (p.Thr483=) rs370015542 0.00009
NM_017763.6(RNF43):c.981A>G (p.Gly327=) rs768840363 0.00003
NM_017763.6(RNF43):c.1719C>T (p.Thr573=) rs764716059 0.00002
NM_017763.6(RNF43):c.1111C>T (p.Arg371Ter) rs771831816 0.00001
NM_017763.6(RNF43):c.1360C>T (p.Arg454Cys) rs1055597951 0.00001
NM_017763.6(RNF43):c.1017C>T (p.Leu339=)
NM_017763.6(RNF43):c.1246T>A (p.Trp416Arg)
NM_017763.6(RNF43):c.1688_1689del (p.Gln563fs)
NM_017763.6(RNF43):c.1809A>C (p.Ser603=)
NM_017763.6(RNF43):c.2212C>T (p.His738Tyr)
NM_017763.6(RNF43):c.261G>A (p.Pro87=) rs201505819
NM_017763.6(RNF43):c.295_296del (p.Leu99fs)
NM_017763.6(RNF43):c.474C>T (p.Thr158=)
NM_017763.6(RNF43):c.518T>G (p.Met173Arg)
NM_017763.6(RNF43):c.576G>C (p.Pro192=) rs76384648
NM_017763.6(RNF43):c.579C>T (p.Ala193=)
NM_017763.6(RNF43):c.6T>C (p.Ser2=)
NM_017763.6(RNF43):c.809C>G (p.Pro270Arg)
NM_017763.6(RNF43):c.988C>T (p.Arg330Ter) rs1972767451

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