ClinVar Miner

List of variants studied for Tenorio syndrome by Invitae

Included ClinVar conditions (1):
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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_017831.4(RNF125):c.494G>A (p.Arg165Gln) rs61749945 0.08760
NM_017831.4(RNF125):c.570A>T (p.Arg190Ser) rs150663325 0.01083
NM_017831.4(RNF125):c.489G>A (p.Ser163=) rs79205763 0.00732
NM_017831.4(RNF125):c.445T>G (p.Tyr149Asp) rs145377749 0.00456
NM_017831.4(RNF125):c.690C>T (p.Asn230=) rs141596575 0.00445
NM_017831.4(RNF125):c.387A>G (p.Leu129=) rs144268137 0.00269
NM_017831.4(RNF125):c.132A>G (p.Leu44=) rs150801287 0.00228
NM_017831.4(RNF125):c.324C>T (p.Cys108=) rs147178607 0.00207
NM_017831.4(RNF125):c.253C>T (p.Pro85Ser) rs140181211 0.00079
NM_017831.4(RNF125):c.90G>A (p.Leu30=) rs201846866 0.00054
NM_017831.4(RNF125):c.493C>T (p.Arg165Trp) rs142382122 0.00037
NM_017831.4(RNF125):c.300C>T (p.Cys100=) rs367997412 0.00028
NM_017831.4(RNF125):c.368T>C (p.Ile123Thr) rs146291499 0.00017
NM_017831.4(RNF125):c.92C>T (p.Pro31Leu) rs751589349 0.00007
NM_017831.4(RNF125):c.521G>A (p.Arg174His) rs141822083 0.00004
NM_017831.4(RNF125):c.81C>A (p.Asp27Glu) rs776932441 0.00004
NM_017831.4(RNF125):c.175T>C (p.Ser59Pro) rs1161192022 0.00001
NM_017831.4(RNF125):c.472A>G (p.Ile158Val) rs2039263250 0.00001
NM_017831.4(RNF125):c.47C>G (p.Ser16Cys) rs766520562 0.00001
NM_017831.4(RNF125):c.488C>T (p.Ser163Leu) rs373764886 0.00001
NM_017831.4(RNF125):c.504+18A>G rs2039264230 0.00001
NC_000018.9:g.(?_29598807)_(29625715_?)dup
NC_000018.9:g.(?_29598827)_(29617252_?)del
NC_000018.9:g.(?_29598827)_(29648347_?)dup
NC_000018.9:g.(?_29645845)_(29648347_?)dup
NC_000018.9:g.(?_29648241)_(29648367_?)dup
NM_017831.4(RNF125):c.10G>C (p.Val4Leu)
NM_017831.4(RNF125):c.111C>T (p.Cys37=)
NM_017831.4(RNF125):c.127G>A (p.Val43Met)
NM_017831.4(RNF125):c.21C>T (p.Thr7=) rs34097443
NM_017831.4(RNF125):c.227G>A (p.Arg76Gln)
NM_017831.4(RNF125):c.24C>G (p.Asp8Glu)
NM_017831.4(RNF125):c.264T>C (p.Asp88=)
NM_017831.4(RNF125):c.28_30del (p.Gly10del) rs753146462
NM_017831.4(RNF125):c.379G>A (p.Gly127Arg) rs1598815885
NM_017831.4(RNF125):c.382C>A (p.Pro128Thr)
NM_017831.4(RNF125):c.410C>T (p.Ala137Val)
NM_017831.4(RNF125):c.414-8A>G
NM_017831.4(RNF125):c.42C>G (p.Pro14=)
NM_017831.4(RNF125):c.454A>G (p.Ser152Gly) rs2039263017
NM_017831.4(RNF125):c.521G>T (p.Arg174Leu)
NM_017831.4(RNF125):c.524del (p.Arg174_Leu175insTer)
NM_017831.4(RNF125):c.532G>A (p.Asp178Asn)
NM_017831.4(RNF125):c.613-14_613-12del
NM_017831.4(RNF125):c.670G>C (p.Glu224Gln)
NM_017831.4(RNF125):c.683A>G (p.His228Arg)
NM_017831.4(RNF125):c.70C>T (p.Arg24Cys)

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