ClinVar Miner

List of variants in gene RTTN reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_173630.4(RTTN):c.734A>G (p.Lys245Arg) rs17082206 0.40022
NM_173630.4(RTTN):c.6144A>G (p.Val2048=) rs2304378 0.16509
NM_173630.4(RTTN):c.4940+7G>A rs17082039 0.02895
NM_173630.4(RTTN):c.4748-5A>G rs28495061 0.02113
NM_173630.4(RTTN):c.2856A>G (p.Leu952=) rs35139926 0.02051
NM_173630.4(RTTN):c.2055+7C>T rs117843366 0.01697
NM_173630.4(RTTN):c.4850T>C (p.Met1617Thr) rs35409908 0.01493
NM_173630.4(RTTN):c.2886-9A>G rs75225724 0.01465
NM_173630.4(RTTN):c.1665C>A (p.Asn555Lys) rs34353615 0.01182
NM_173630.4(RTTN):c.1842A>G (p.Glu614=) rs140245773 0.01182
NM_173630.4(RTTN):c.5060C>G (p.Ser1687Cys) rs34717557 0.01180
NM_173630.4(RTTN):c.1008-4G>T rs151203272 0.01176
NM_173630.4(RTTN):c.1929+3G>A rs75464253 0.00767
NM_173630.4(RTTN):c.32-3C>T rs75577820 0.00750
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098 0.00624
NM_173630.4(RTTN):c.6015C>T (p.Ala2005=) rs117183725 0.00590
NM_173630.4(RTTN):c.1921A>G (p.Ile641Val) rs117502718 0.00584
NM_173630.4(RTTN):c.2466A>G (p.Arg822=) rs115470168 0.00564
NM_173630.4(RTTN):c.3581A>G (p.Glu1194Gly) rs34533087 0.00548
NM_173630.4(RTTN):c.183G>A (p.Lys61=) rs34922729 0.00541
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_173630.4(RTTN):c.6636T>C (p.Tyr2212=) rs35558429 0.00497
NM_173630.4(RTTN):c.227C>T (p.Pro76Leu) rs114765225 0.00496
NM_173630.4(RTTN):c.4992G>C (p.Leu1664=) rs34041767 0.00492
NM_173630.4(RTTN):c.5991T>C (p.Pro1997=) rs34749812 0.00449
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458 0.00389
NM_173630.4(RTTN):c.635A>C (p.Asp212Ala) rs12956068 0.00334
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) rs35374168 0.00275
NM_173630.4(RTTN):c.2990C>T (p.Ala997Val) rs143471549 0.00255
NM_173630.4(RTTN):c.4303-8A>G rs199597732 0.00230
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr) rs117774280 0.00217
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met) rs62089120 0.00216
NM_173630.4(RTTN):c.1330G>A (p.Gly444Arg) rs199780405 0.00192
NM_173630.4(RTTN):c.5883G>A (p.Leu1961=) rs35313369 0.00185
NM_173630.4(RTTN):c.885A>G (p.Ala295=) rs148445363 0.00111
NM_173630.4(RTTN):c.805T>C (p.Phe269Leu) rs141156594 0.00096
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00082
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_173630.4(RTTN):c.630G>C (p.Leu210Phe) rs201538332 0.00063
NM_173630.4(RTTN):c.2255C>T (p.Pro752Leu) rs35424122 0.00043
NM_173630.4(RTTN):c.5916G>C (p.Gln1972His) rs201267273 0.00037
NM_173630.4(RTTN):c.2355T>C (p.Ser785=) rs200600259 0.00029
NM_173630.4(RTTN):c.330T>A (p.Asp110Glu) rs372296200 0.00022
NM_173630.4(RTTN):c.590G>A (p.Ser197Asn) rs549561642 0.00013
NM_173630.4(RTTN):c.2183A>C (p.Asp728Ala) rs370674668 0.00011
NM_173630.4(RTTN):c.309T>C (p.Ala103=) rs554154376 0.00011
NM_173630.4(RTTN):c.5200T>G (p.Ser1734Ala) rs111886844 0.00011
NM_173630.4(RTTN):c.4033-21G>T rs929083334 0.00009
NM_173630.4(RTTN):c.6535G>C (p.Ala2179Pro) rs587780444 0.00007
NM_173630.4(RTTN):c.2881A>G (p.Met961Val) rs371633774 0.00006
NM_173630.4(RTTN):c.3401C>G (p.Pro1134Arg) rs751565369 0.00005
NM_173630.4(RTTN):c.905A>C (p.Gln302Pro) rs201044643 0.00004
NM_173630.4(RTTN):c.1768C>T (p.Leu590=) rs752422245 0.00003
NM_173630.4(RTTN):c.6153+5G>A rs587780443 0.00003
NM_173630.4(RTTN):c.1076T>C (p.Ile359Thr) rs772137594 0.00001
NM_173630.4(RTTN):c.2520A>C (p.Ser840=) rs1269456109 0.00001
NM_173630.4(RTTN):c.2581+7T>G rs797045925 0.00001
NM_173630.4(RTTN):c.3337T>C (p.Cys1113Arg) rs587780442 0.00001
NM_173630.4(RTTN):c.4327C>T (p.Leu1443Phe) rs980776312 0.00001
NM_173630.4(RTTN):c.640A>G (p.Ile214Val) rs797045926 0.00001
NM_173630.4(RTTN):c.998C>T (p.Ala333Val) rs577076002 0.00001
NM_173630.4(RTTN):c.1673C>A (p.Ser558Tyr) rs777233196
NM_173630.4(RTTN):c.2183A>G (p.Asp728Gly) rs370674668
NM_173630.4(RTTN):c.257C>T (p.Ala86Val) rs797045924
NM_173630.4(RTTN):c.2601G>A (p.Val867=) rs2145715138
NM_173630.4(RTTN):c.376T>A (p.Ser126Thr) rs3911730
NM_173630.4(RTTN):c.5185+1G>A rs1555707336
NM_173630.4(RTTN):c.5186-4A>G rs28599773
NM_173630.4(RTTN):c.5743A>C (p.Lys1915Gln) rs2145587107

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