ClinVar Miner

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

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Total variants: 34
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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.6445G>A (p.Ala2149Thr) rs34989098 0.00624
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.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.1330G>A (p.Gly444Arg) rs199780405 0.00192
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.1221A>G (p.Glu407=) rs112327299 0.00081
NM_173630.4(RTTN):c.309T>C (p.Ala103=) rs554154376 0.00011
NM_173630.4(RTTN):c.2520A>C (p.Ser840=) rs1269456109 0.00001
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.5186-4A>G rs28599773

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