ClinVar Miner

List of variants in gene RTTN reported as uncertain significance for not specified

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Total variants: 29
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HGVS dbSNP gnomAD frequency
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.5883G>A (p.Leu1961=) rs35313369 0.00185
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00082
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.5200T>G (p.Ser1734Ala) rs111886844 0.00011
NM_173630.4(RTTN):c.4033-21G>T rs929083334 0.00009
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.1076T>C (p.Ile359Thr) rs772137594 0.00001
NM_173630.4(RTTN):c.2581+7T>G rs797045925 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
GRCh37/hg19 18q22.2(chr18:67653251-67708740)
GRCh37/hg19 18q22.2(chr18:67753977-67788395)
NC_000018.9:g.(67742778_67753848)_(67753921_67755224)del
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.5743A>C (p.Lys1915Gln) rs2145587107

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