ClinVar Miner

List of variants in gene RNF213 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_001256071.3(RNF213):c.2838A>G (p.Gln946=) rs72849865 0.00586
NM_001256071.3(RNF213):c.13510+4A>G rs139279361 0.00432
NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys) rs147868237 0.00389
NM_001256071.3(RNF213):c.12817G>A (p.Asp4273Asn) rs141329059 0.00330
NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val) rs201493500 0.00317
NM_001256071.3(RNF213):c.11972+8C>T rs146754081 0.00310
NM_001256071.3(RNF213):c.11847C>T (p.Thr3949=) rs117705614 0.00286
NM_001256071.3(RNF213):c.3780C>T (p.Pro1260=) rs139471994 0.00285
NM_001256071.3(RNF213):c.6551A>G (p.Gln2184Arg) rs138595111 0.00256
NM_001256071.3(RNF213):c.4156G>A (p.Asp1386Asn) rs113139767 0.00255
NM_001256071.3(RNF213):c.7830C>T (p.Asn2610=) rs144098631 0.00252
NM_001256071.3(RNF213):c.576C>T (p.Ser192=) rs112089914 0.00242
NM_001256071.3(RNF213):c.11201-6C>A rs112015622 0.00241
NM_001256071.3(RNF213):c.11589A>G (p.Ala3863=) rs141567136 0.00240
NM_001256071.3(RNF213):c.12042C>T (p.His4014=) rs145210854 0.00239
NM_001256071.3(RNF213):c.2847G>A (p.Ala949=) rs140980905 0.00235
NM_001256071.3(RNF213):c.9852G>A (p.Ser3284=) rs111406243 0.00232
NM_001256071.3(RNF213):c.9952A>G (p.Ile3318Val) rs147785564 0.00193
NM_001256071.3(RNF213):c.8790G>A (p.Gly2930=) rs143472355 0.00132
NM_001256071.3(RNF213):c.397C>A (p.Leu133Met) rs149177904 0.00099
NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn) rs144769597 0.00099
NM_001256071.3(RNF213):c.2656-5A>G rs201832175 0.00090
NM_001256071.3(RNF213):c.14784C>T (p.Asp4928=) rs147131622 0.00081
NM_001256071.3(RNF213):c.483C>T (p.Asp161=) rs142022751 0.00065
NM_001256071.3(RNF213):c.1471+8G>A rs368777091 0.00053
NM_001256071.3(RNF213):c.13250G>A (p.Arg4417His) rs150148627 0.00041
NM_001256071.3(RNF213):c.11892C>T (p.Asp3964=) rs146256408 0.00022
NM_001256071.3(RNF213):c.10424-8G>A rs139828251 0.00019
NM_001256071.3(RNF213):c.10725C>T (p.His3575=) rs371195005 0.00019
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr) rs148776624 0.00016
NM_001256071.3(RNF213):c.14880C>T (p.Ile4960=) rs144367158 0.00006
NM_001256071.3(RNF213):c.10326C>T (p.Ile3442=)
NM_001256071.3(RNF213):c.10438C>T (p.Arg3480Trp) rs148139681
NM_001256071.3(RNF213):c.11193C>T (p.Asp3731=)
NM_001256071.3(RNF213):c.11415C>T (p.Pro3805=)
NM_001256071.3(RNF213):c.11886C>T (p.Asn3962=)
NM_001256071.3(RNF213):c.11901G>A (p.Thr3967=)
NM_001256071.3(RNF213):c.1200C>G (p.Val400=)
NM_001256071.3(RNF213):c.1302A>G (p.Glu434=)
NM_001256071.3(RNF213):c.14853C>T (p.Phe4951=)
NM_001256071.3(RNF213):c.15075G>A (p.Leu5025=)
NM_001256071.3(RNF213):c.15591T>C (p.Ala5197=)
NM_001256071.3(RNF213):c.1641C>T (p.Ile547=)
NM_001256071.3(RNF213):c.2400G>A (p.Pro800=) rs769268221
NM_001256071.3(RNF213):c.261+5483G>T
NM_001256071.3(RNF213):c.3006C>T (p.Ala1002=)
NM_001256071.3(RNF213):c.3024+84G>A
NM_001256071.3(RNF213):c.4110T>G (p.Gly1370=)
NM_001256071.3(RNF213):c.447G>A (p.Gln149=)
NM_001256071.3(RNF213):c.4776G>A (p.Leu1592=)
NM_001256071.3(RNF213):c.4872C>T (p.Ile1624=)
NM_001256071.3(RNF213):c.5465C>T (p.Pro1822Leu)
NM_001256071.3(RNF213):c.5601G>A (p.Pro1867=)
NM_001256071.3(RNF213):c.5635C>T (p.Arg1879Cys)
NM_001256071.3(RNF213):c.6545C>T (p.Thr2182Met)
NM_001256071.3(RNF213):c.681T>C (p.Ala227=)
NM_001256071.3(RNF213):c.7089C>T (p.Val2363=)
NM_001256071.3(RNF213):c.715C>G (p.Gln239Glu)
NM_001256071.3(RNF213):c.7551C>T (p.Gly2517=)
NM_001256071.3(RNF213):c.8084C>T (p.Ala2695Val)
NM_001256071.3(RNF213):c.8331C>T (p.Leu2777=)
NM_001256071.3(RNF213):c.8433G>A (p.Pro2811=)
NM_001256071.3(RNF213):c.8799G>A (p.Ala2933=)
NM_001256071.3(RNF213):c.9089C>T (p.Pro3030Leu)
NM_001256071.3(RNF213):c.917T>C (p.Phe306Ser)
NM_001256071.3(RNF213):c.9183G>A (p.Glu3061=)
NM_001256071.3(RNF213):c.9453T>C (p.Ile3151=)
NM_001256071.3(RNF213):c.9716C>T (p.Pro3239Leu)

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