ClinVar Miner

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

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Total variants: 21
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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.2101C>T (p.Arg701Ter) rs932327641 0.00002
NM_173630.4(RTTN):c.6421+1G>A rs374274442 0.00002
NM_173630.4(RTTN):c.1444C>T (p.Arg482Ter) rs752150024 0.00001
NM_173630.4(RTTN):c.2552C>T (p.Ala851Val) rs374285374 0.00001
NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg) rs201253231 0.00001
NM_173630.4(RTTN):c.796A>T (p.Arg266Ter) rs1131691284 0.00001
NC_000018.9:g.(?_67781793)_(67789868_?)del
NM_173630.4(RTTN):c.220-1G>A
NM_173630.4(RTTN):c.2482-1G>T
NM_173630.4(RTTN):c.2581+1G>A
NM_173630.4(RTTN):c.2886-2A>G
NM_173630.4(RTTN):c.2927T>C (p.Phe976Ser) rs886039611
NM_173630.4(RTTN):c.3380dup (p.Asn1127fs) rs797044691
NM_173630.4(RTTN):c.3529-2del
NM_173630.4(RTTN):c.398-1G>T
NM_173630.4(RTTN):c.4295G>A (p.Arg1432His) rs1465962355
NM_173630.4(RTTN):c.4474C>T (p.Gln1492Ter) rs1555717153
NM_173630.4(RTTN):c.5186-1_5188del
NM_173630.4(RTTN):c.5323+2T>C
NM_173630.4(RTTN):c.693+1G>T

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