ClinVar Miner

List of variants in gene RTTN reported as pathogenic for not provided

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_173630.4(RTTN):c.88G>T (p.Glu30Ter) rs200495808 0.00005
NM_173630.4(RTTN):c.1624C>T (p.Arg542Ter) rs374356518 0.00002
NM_173630.4(RTTN):c.3449T>A (p.Leu1150Ter) rs766635681 0.00001
NM_173630.4(RTTN):c.4444dup (p.Tyr1482fs) rs779516131 0.00001
NM_173630.4(RTTN):c.673C>T (p.Gln225Ter) rs199700128 0.00001
GRCh37/hg19 18q22.2(chr18:67671387-67809623)x1
NC_000018.9:g.(?_67753829)_(67788956_?)del
NC_000018.9:g.(?_67801689)_(67806972_?)del
NM_173630.4(RTTN):c.1123C>T (p.Gln375Ter) rs2146092980
NM_173630.4(RTTN):c.1491dup (p.Ser498fs)
NM_173630.4(RTTN):c.1678del (p.Ile560fs) rs2145924056
NM_173630.4(RTTN):c.1834C>T (p.Gln612Ter)
NM_173630.4(RTTN):c.1885C>T (p.Arg629Ter)
NM_173630.4(RTTN):c.2053G>T (p.Glu685Ter)
NM_173630.4(RTTN):c.2708del (p.Leu902_Leu903insTer)
NM_173630.4(RTTN):c.2753C>A (p.Ser918Ter) rs759249497
NM_173630.4(RTTN):c.2886G>A (p.Trp962Ter)
NM_173630.4(RTTN):c.2941del (p.Ser981fs)
NM_173630.4(RTTN):c.2953A>G (p.Arg985Gly)
NM_173630.4(RTTN):c.3175_3178del (p.Asp1059fs) rs2145613736
NM_173630.4(RTTN):c.3238_3241del (p.Val1080fs)
NM_173630.4(RTTN):c.3589_3590del (p.Thr1196_Asp1197insTer) rs886041460
NM_173630.4(RTTN):c.3653T>A (p.Leu1218Ter)
NM_173630.4(RTTN):c.3705C>A (p.Tyr1235Ter) rs375510822
NM_173630.4(RTTN):c.3800T>G (p.Leu1267Ter)
NM_173630.4(RTTN):c.3943_3946del (p.Met1315fs) rs1195644432
NM_173630.4(RTTN):c.4425_4428dup (p.Leu1477fs)
NM_173630.4(RTTN):c.4737del (p.Phe1579fs)
NM_173630.4(RTTN):c.4909C>T (p.Arg1637Ter)
NM_173630.4(RTTN):c.4966dup (p.Thr1656fs)
NM_173630.4(RTTN):c.4975C>T (p.Gln1659Ter) rs771001575
NM_173630.4(RTTN):c.4984del (p.Arg1662fs)
NM_173630.4(RTTN):c.5201C>G (p.Ser1734Ter)
NM_173630.4(RTTN):c.6125C>A (p.Ser2042Ter)
NM_173630.4(RTTN):c.6398del (p.Asn2133fs) rs2145501058
NM_173630.4(RTTN):c.964C>T (p.Arg322Ter)

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