ClinVar Miner

List of variants in gene RTTN reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 57
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HGVS dbSNP gnomAD frequency
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.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_173630.4(RTTN):c.5225A>G (p.His1742Arg) rs285227 0.00496
NM_173630.4(RTTN):c.5991T>C (p.Pro1997=) rs34749812 0.00449
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.3338G>A (p.Cys1113Tyr) rs117774280 0.00217
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met) rs62089120 0.00216
NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr) rs35068710 0.00210
NM_173630.4(RTTN):c.5280G>A (p.Pro1760=) rs186543005 0.00198
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_173630.4(RTTN):c.2804A>G (p.His935Arg) rs145832674 0.00164
NM_173630.4(RTTN):c.1563T>C (p.Ile521=) rs200975487 0.00148
NM_173630.4(RTTN):c.4308A>G (p.Ala1436=) rs200315704 0.00115
NM_173630.4(RTTN):c.885A>G (p.Ala295=) rs148445363 0.00111
NM_173630.4(RTTN):c.2568T>A (p.Ala856=) rs370998068 0.00061
NM_173630.4(RTTN):c.282G>T (p.Arg94=) rs199908033 0.00057
NM_173630.4(RTTN):c.4032+6C>T rs182157946 0.00048
NM_173630.4(RTTN):c.833A>G (p.Asn278Ser) rs77760128 0.00037
NM_173630.4(RTTN):c.6080C>T (p.Thr2027Met) rs199546509 0.00025
NM_173630.4(RTTN):c.4878G>A (p.Thr1626=) rs202066623 0.00016
NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys) rs368918234 0.00014
NM_173630.4(RTTN):c.5055A>G (p.Leu1685=) rs372431222 0.00014
NM_173630.4(RTTN):c.5850C>T (p.Val1950=) rs370480126 0.00012
NM_173630.4(RTTN):c.5610G>A (p.Leu1870=) rs376578513 0.00009
NM_173630.4(RTTN):c.4234G>A (p.Gly1412Ser) rs370765246 0.00006
NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met) rs781683199 0.00006
NM_173630.4(RTTN):c.5904A>G (p.Gln1968=) rs773824712 0.00006
NM_173630.4(RTTN):c.3401C>G (p.Pro1134Arg) rs751565369 0.00005
NM_173630.4(RTTN):c.2943C>T (p.Ser981=) rs373433381 0.00004
NM_173630.4(RTTN):c.1869G>T (p.Leu623Phe) rs757634334 0.00002
NM_173630.4(RTTN):c.5259A>G (p.Lys1753=) rs1218745291 0.00002
NM_173630.4(RTTN):c.2262T>C (p.Thr754=) rs768280717 0.00001
NM_173630.4(RTTN):c.3018C>T (p.Pro1006=) rs369927073 0.00001
NM_173630.4(RTTN):c.3045G>A (p.Lys1015=) rs1443333617 0.00001
NM_173630.4(RTTN):c.6443C>A (p.Ala2148Asp) rs757807524 0.00001
GRCh37/hg19 18q22.2(chr18:67671387-67809623)x1
NM_173630.4(RTTN):c.1215T>C (p.Val405=)
NM_173630.4(RTTN):c.2203A>G (p.Asn735Asp) rs2060468580
NM_173630.4(RTTN):c.2821G>C (p.Val941Leu)
NM_173630.4(RTTN):c.3705C>A (p.Tyr1235Ter) rs375510822
NM_173630.4(RTTN):c.399A>G (p.Glu133=)
NM_173630.4(RTTN):c.4269G>A (p.Leu1423=)
NM_173630.4(RTTN):c.4374G>A (p.Gln1458=) rs1459805081
NM_173630.4(RTTN):c.4474C>T (p.Gln1492Ter) rs1555717153
NM_173630.4(RTTN):c.4548A>G (p.Glu1516=)
NM_173630.4(RTTN):c.4565-6_4565-4del rs775033795
NM_173630.4(RTTN):c.4856G>A (p.Ser1619Asn) rs1599327363
NM_173630.4(RTTN):c.4917T>C (p.Ala1639=)
NM_173630.4(RTTN):c.5049A>T (p.Glu1683Asp) rs1599300112
NM_173630.4(RTTN):c.5319G>C (p.Ala1773=) rs35439940
NM_173630.4(RTTN):c.5649C>A (p.Ala1883=)
NM_173630.4(RTTN):c.6125C>T (p.Ser2042Leu)
NM_173630.4(RTTN):c.6624A>G (p.Leu2208=)

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