ClinVar Miner

List of variants in gene AUTS2 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 413
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=) rs79439293 0.00558
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His) rs767529359 0.00038
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe) rs150765660 0.00031
NM_015570.4(AUTS2):c.3776G>A (p.Arg1259Gln) rs148604002 0.00022
NM_015570.4(AUTS2):c.467G>A (p.Arg156His) rs141278123 0.00013
NM_015570.4(AUTS2):c.3341G>A (p.Arg1114His) rs370456436 0.00006
NM_015570.4(AUTS2):c.1441G>A (p.Gly481Arg) rs767056271 0.00004
NM_015570.4(AUTS2):c.1264A>G (p.Ile422Val) rs376584055 0.00003
NM_015570.4(AUTS2):c.2834G>A (p.Arg945Gln) rs756314192 0.00003
NM_015570.4(AUTS2):c.3715C>A (p.Pro1239Thr) rs768478864 0.00003
NM_015570.4(AUTS2):c.2284G>A (p.Gly762Arg) rs770211572 0.00002
NM_015570.4(AUTS2):c.3638C>T (p.Pro1213Leu) rs200355149 0.00002
NM_015570.4(AUTS2):c.568G>A (p.Ala190Thr) rs747579459 0.00002
NM_015570.4(AUTS2):c.1546C>T (p.Pro516Ser) rs1445762479 0.00001
NM_015570.4(AUTS2):c.1727G>A (p.Arg576Gln) rs773674679 0.00001
NM_015570.4(AUTS2):c.1766G>C (p.Gly589Ala) rs756954861 0.00001
NM_015570.4(AUTS2):c.1826C>T (p.Pro609Leu) rs773419852 0.00001
NM_015570.4(AUTS2):c.1852G>A (p.Ala618Thr) rs1203289728 0.00001
NM_015570.4(AUTS2):c.2210C>T (p.Pro737Leu) rs761880351 0.00001
NM_015570.4(AUTS2):c.2335G>A (p.Asp779Asn) rs147106727 0.00001
NM_015570.4(AUTS2):c.2336A>G (p.Asp779Gly) rs1361039805 0.00001
NM_015570.4(AUTS2):c.2363A>C (p.Asn788Thr) rs752606916 0.00001
NM_015570.4(AUTS2):c.2456C>T (p.Ala819Val) rs761661914 0.00001
NM_015570.4(AUTS2):c.2636A>T (p.His879Leu) rs201559855 0.00001
NM_015570.4(AUTS2):c.2819C>T (p.Pro940Leu) rs764683823 0.00001
NM_015570.4(AUTS2):c.3184C>T (p.Pro1062Ser) rs1057521756 0.00001
NM_015570.4(AUTS2):c.3298C>G (p.Pro1100Ala) rs763284520 0.00001
NM_015570.4(AUTS2):c.3416C>T (p.Pro1139Leu) rs762069191 0.00001
NM_015570.4(AUTS2):c.345G>T (p.Glu115Asp) rs749437705 0.00001
NM_015570.4(AUTS2):c.689A>T (p.Lys230Met) rs1264698869 0.00001
NM_015570.4(AUTS2):c.770C>G (p.Pro257Arg) rs200108105 0.00001
GRCh37/hg19 7q11.22(chr7:68992772-69342926)x3
GRCh37/hg19 7q11.22(chr7:69248219-69273242)x1
GRCh37/hg19 7q11.22(chr7:69248785-69292030)x1
GRCh37/hg19 7q11.22(chr7:69265676-69446764)x3
GRCh37/hg19 7q11.22(chr7:69276549-69336926)x1
GRCh37/hg19 7q11.22(chr7:69296647-69358695)x1
GRCh37/hg19 7q11.22(chr7:69325516-69389457)x1
GRCh37/hg19 7q11.22(chr7:69377149-69438070)x1
GRCh37/hg19 7q11.22(chr7:69649150-69707690)x1
GRCh37/hg19 7q11.22(chr7:69659502-69722764)x1
GRCh37/hg19 7q11.22(chr7:69697229-69729484)x1
GRCh37/hg19 7q11.22(chr7:69723512-69791423)x1
GRCh37/hg19 7q11.22(chr7:69951304-70051759)x1
GRCh37/hg19 7q11.22(chr7:69992097-70043845)x1
GRCh37/hg19 7q11.22(chr7:70138876-70496984)x3
GRCh37/hg19 7q11.22(chr7:70189311-70529567)x3
GRCh37/hg19 7q11.22(chr7:70217657-70536916)x3
NC_000007.13:g.(?_69064640)_(70255982_?)dup
NC_000007.13:g.(?_69364252)_(69364504_?)del
NC_000007.13:g.(?_69364252)_(69583239_?)del
NC_000007.13:g.(?_69583098)_(69583239_?)del
NC_000007.13:g.(?_69900718)_(69900787_?)dup
NM_015570.4(AUTS2):c.1010T>G (p.Leu337Arg)
NM_015570.4(AUTS2):c.1031G>A (p.Gly344Asp)
NM_015570.4(AUTS2):c.1036C>T (p.Pro346Ser) rs1005352416
NM_015570.4(AUTS2):c.1041G>T (p.Glu347Asp)
NM_015570.4(AUTS2):c.1046A>T (p.Gln349Leu)
NM_015570.4(AUTS2):c.1048C>T (p.Leu350Phe)
NM_015570.4(AUTS2):c.1058C>T (p.Ala353Val) rs2129556998
NM_015570.4(AUTS2):c.1060C>T (p.Pro354Ser)
NM_015570.4(AUTS2):c.1061C>G (p.Pro354Arg) rs545795149
NM_015570.4(AUTS2):c.1099C>T (p.Pro367Ser)
NM_015570.4(AUTS2):c.10C>A (p.Pro4Thr)
NM_015570.4(AUTS2):c.10C>G (p.Pro4Ala)
NM_015570.4(AUTS2):c.1100C>G (p.Pro367Arg)
NM_015570.4(AUTS2):c.1106A>C (p.Gln369Pro)
NM_015570.4(AUTS2):c.1126C>T (p.Pro376Ser)
NM_015570.4(AUTS2):c.1132G>A (p.Val378Met)
NM_015570.4(AUTS2):c.1132G>C (p.Val378Leu) rs771546186
NM_015570.4(AUTS2):c.1138G>A (p.Ala380Thr)
NM_015570.4(AUTS2):c.1141C>T (p.His381Tyr)
NM_015570.4(AUTS2):c.1155G>C (p.Gln385His)
NM_015570.4(AUTS2):c.1165C>G (p.Gln389Glu)
NM_015570.4(AUTS2):c.1204A>C (p.Asn402His)
NM_015570.4(AUTS2):c.1205A>G (p.Asn402Ser)
NM_015570.4(AUTS2):c.1213A>G (p.Ser405Gly)
NM_015570.4(AUTS2):c.1214+5G>A
NM_015570.4(AUTS2):c.1214G>A (p.Ser405Asn)
NM_015570.4(AUTS2):c.1276C>G (p.Pro426Ala)
NM_015570.4(AUTS2):c.1282G>A (p.Ala428Thr)
NM_015570.4(AUTS2):c.1312C>T (p.His438Tyr)
NM_015570.4(AUTS2):c.1336C>G (p.Pro446Ala)
NM_015570.4(AUTS2):c.1342C>T (p.Leu448Phe)
NM_015570.4(AUTS2):c.1354G>A (p.Ala452Thr)
NM_015570.4(AUTS2):c.1357C>A (p.His453Asn)
NM_015570.4(AUTS2):c.1363C>T (p.His455Tyr)
NM_015570.4(AUTS2):c.1368C>A (p.His456Gln)
NM_015570.4(AUTS2):c.1382C>T (p.Ala461Val)
NM_015570.4(AUTS2):c.1387C>G (p.Pro463Ala)
NM_015570.4(AUTS2):c.1387C>T (p.Pro463Ser)
NM_015570.4(AUTS2):c.1409C>T (p.Pro470Leu)
NM_015570.4(AUTS2):c.1427G>C (p.Ser476Thr)
NM_015570.4(AUTS2):c.142C>G (p.Leu48Val)
NM_015570.4(AUTS2):c.1442G>C (p.Gly481Ala)
NM_015570.4(AUTS2):c.1446C>G (p.His482Gln)
NM_015570.4(AUTS2):c.1448C>G (p.Pro483Arg)
NM_015570.4(AUTS2):c.1448C>T (p.Pro483Leu)
NM_015570.4(AUTS2):c.1468+3A>G
NM_015570.4(AUTS2):c.1481T>C (p.Leu494Ser) rs1057521372
NM_015570.4(AUTS2):c.149C>T (p.Ser50Leu)
NM_015570.4(AUTS2):c.1508T>C (p.Leu503Ser)
NM_015570.4(AUTS2):c.1530_1532dup (p.Gly511_Ala512insGly)
NM_015570.4(AUTS2):c.1531G>A (p.Gly511Arg)
NM_015570.4(AUTS2):c.1544G>A (p.Gly515Asp)
NM_015570.4(AUTS2):c.1547C>G (p.Pro516Arg)
NM_015570.4(AUTS2):c.1576CAGCAC[2] (p.526QH[2])
NM_015570.4(AUTS2):c.1576CAGCAC[3] (p.526QH[3]) rs766349738
NM_015570.4(AUTS2):c.1585C>T (p.His529Tyr)
NM_015570.4(AUTS2):c.1588_1611del (p.Gln530_His537del) rs2129557492
NM_015570.4(AUTS2):c.1593_1594delinsAG (p.His531_Gln532delinsGlnGlu)
NM_015570.4(AUTS2):c.1598A>T (p.His533Leu) rs1064795461
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.1610A>C (p.His537Pro) rs2129557496
NM_015570.4(AUTS2):c.1613C>T (p.Thr538Met)
NM_015570.4(AUTS2):c.1614_1625del (p.531HQHT[2])
NM_015570.4(AUTS2):c.1614_1625dup (p.Thr542_Phe543insHisGlnHisThr)
NM_015570.4(AUTS2):c.1642C>A (p.His548Asn)
NM_015570.4(AUTS2):c.1644C>A (p.His548Gln)
NM_015570.4(AUTS2):c.1645G>A (p.Ala549Thr)
NM_015570.4(AUTS2):c.1645G>C (p.Ala549Pro)
NM_015570.4(AUTS2):c.1655C>A (p.Pro552His)
NM_015570.4(AUTS2):c.1666A>G (p.Met556Val)
NM_015570.4(AUTS2):c.1670C>T (p.Pro557Leu) rs1359937867
NM_015570.4(AUTS2):c.1684C>T (p.Pro562Ser)
NM_015570.4(AUTS2):c.1690-3del
NM_015570.4(AUTS2):c.16C>T (p.Arg6Trp)
NM_015570.4(AUTS2):c.1706C>G (p.Thr569Arg)
NM_015570.4(AUTS2):c.1713T>G (p.Val571=)
NM_015570.4(AUTS2):c.1723T>C (p.Tyr575His)
NM_015570.4(AUTS2):c.1733G>A (p.Ser578Asn)
NM_015570.4(AUTS2):c.1753C>T (p.Pro585Ser)
NM_015570.4(AUTS2):c.1783C>T (p.Pro595Ser)
NM_015570.4(AUTS2):c.184C>A (p.Pro62Thr)
NM_015570.4(AUTS2):c.185C>T (p.Pro62Leu)
NM_015570.4(AUTS2):c.1864G>T (p.Gly622Trp)
NM_015570.4(AUTS2):c.1877A>T (p.His626Leu)
NM_015570.4(AUTS2):c.1902+4C>T
NM_015570.4(AUTS2):c.1902+5G>A
NM_015570.4(AUTS2):c.1904T>G (p.Leu635Trp)
NM_015570.4(AUTS2):c.1913C>T (p.Pro638Leu)
NM_015570.4(AUTS2):c.1924A>G (p.Met642Val)
NM_015570.4(AUTS2):c.1932+4A>G
NM_015570.4(AUTS2):c.1932G>A (p.Arg644=)
NM_015570.4(AUTS2):c.1937C>G (p.Pro646Arg)
NM_015570.4(AUTS2):c.1944G>C (p.Lys648Asn)
NM_015570.4(AUTS2):c.194C>T (p.Ser65Phe)
NM_015570.4(AUTS2):c.1951G>A (p.Ala651Thr) rs1790754677
NM_015570.4(AUTS2):c.1969G>A (p.Ala657Thr)
NM_015570.4(AUTS2):c.1972T>C (p.Trp658Arg)
NM_015570.4(AUTS2):c.1983CCA[2] (p.His663del)
NM_015570.4(AUTS2):c.1996A>C (p.Lys666Gln)
NM_015570.4(AUTS2):c.1999G>A (p.Val667Ile)
NM_015570.4(AUTS2):c.2027A>G (p.His676Arg)
NM_015570.4(AUTS2):c.203C>G (p.Ser68Cys) rs1583913715
NM_015570.4(AUTS2):c.2042G>T (p.Gly681Val)
NM_015570.4(AUTS2):c.2057T>C (p.Phe686Ser)
NM_015570.4(AUTS2):c.205C>T (p.Arg69Trp)
NM_015570.4(AUTS2):c.2065C>T (p.Arg689Cys)
NM_015570.4(AUTS2):c.206G>A (p.Arg69Gln)
NM_015570.4(AUTS2):c.2083C>G (p.Leu695Val)
NM_015570.4(AUTS2):c.2087T>C (p.Phe696Ser)
NM_015570.4(AUTS2):c.2095A>C (p.Ile699Leu)
NM_015570.4(AUTS2):c.2103C>G (p.His701Gln)
NM_015570.4(AUTS2):c.2109T>G (p.His703Gln)
NM_015570.4(AUTS2):c.2119C>T (p.Arg707Trp)
NM_015570.4(AUTS2):c.2143G>A (p.Ala715Thr)
NM_015570.4(AUTS2):c.2143G>T (p.Ala715Ser)
NM_015570.4(AUTS2):c.2144_2146+3dup rs2129559986
NM_015570.4(AUTS2):c.2146+7G>A
NM_015570.4(AUTS2):c.2150C>T (p.Ala717Val)
NM_015570.4(AUTS2):c.2155C>T (p.His719Tyr)
NM_015570.4(AUTS2):c.2173T>G (p.Phe725Val)
NM_015570.4(AUTS2):c.2183C>T (p.Pro728Leu)
NM_015570.4(AUTS2):c.2199C>A (p.Asn733Lys)
NM_015570.4(AUTS2):c.221G>A (p.Arg74Gln)
NM_015570.4(AUTS2):c.224G>C (p.Arg75Thr) rs2129067562
NM_015570.4(AUTS2):c.2254G>T (p.Gly752Cys)
NM_015570.4(AUTS2):c.2260G>A (p.Ala754Thr)
NM_015570.4(AUTS2):c.2273G>A (p.Gly758Asp)
NM_015570.4(AUTS2):c.2284G>C (p.Gly762Arg)
NM_015570.4(AUTS2):c.2287G>A (p.Gly763Arg)
NM_015570.4(AUTS2):c.2288G>T (p.Gly763Val)
NM_015570.4(AUTS2):c.2309-9_2309-2del
NM_015570.4(AUTS2):c.2320A>G (p.Met774Val) rs1158235085
NM_015570.4(AUTS2):c.2321T>C (p.Met774Thr)
NM_015570.4(AUTS2):c.2326G>A (p.Gly776Ser)
NM_015570.4(AUTS2):c.2335G>T (p.Asp779Tyr)
NM_015570.4(AUTS2):c.2339G>A (p.Gly780Asp)
NM_015570.4(AUTS2):c.2365C>A (p.Pro789Thr)
NM_015570.4(AUTS2):c.2368C>T (p.His790Tyr)
NM_015570.4(AUTS2):c.2369A>C (p.His790Pro)
NM_015570.4(AUTS2):c.2375C>T (p.Pro792Leu)
NM_015570.4(AUTS2):c.238T>C (p.Ser80Pro)
NM_015570.4(AUTS2):c.2417C>T (p.Pro806Leu)
NM_015570.4(AUTS2):c.2420C>T (p.Pro807Leu)
NM_015570.4(AUTS2):c.2440G>C (p.Glu814Gln)
NM_015570.4(AUTS2):c.2443C>A (p.Leu815Met)
NM_015570.4(AUTS2):c.2446G>A (p.Glu816Lys)
NM_015570.4(AUTS2):c.2448G>T (p.Glu816Asp)
NM_015570.4(AUTS2):c.2449C>T (p.Arg817Cys)
NM_015570.4(AUTS2):c.244T>A (p.Ser82Thr)
NM_015570.4(AUTS2):c.2450G>T (p.Arg817Leu) rs150219264
NM_015570.4(AUTS2):c.2455G>A (p.Ala819Thr)
NM_015570.4(AUTS2):c.245C>G (p.Ser82Trp)
NM_015570.4(AUTS2):c.2461G>A (p.Ala821Thr)
NM_015570.4(AUTS2):c.2467G>C (p.Ala823Pro) rs2129561056
NM_015570.4(AUTS2):c.2479G>C (p.Asp827His)
NM_015570.4(AUTS2):c.2494A>G (p.Lys832Glu) rs2129561062
NM_015570.4(AUTS2):c.2497C>T (p.Arg833Ter) rs1554487952
NM_015570.4(AUTS2):c.2524A>C (p.Lys842Gln)
NM_015570.4(AUTS2):c.2531G>T (p.Arg844Met) rs771663725
NM_015570.4(AUTS2):c.2548A>G (p.Arg850Gly)
NM_015570.4(AUTS2):c.2551C>G (p.His851Asp)
NM_015570.4(AUTS2):c.2587G>A (p.Val863Met)
NM_015570.4(AUTS2):c.2597T>C (p.Leu866Pro)
NM_015570.4(AUTS2):c.2603A>G (p.His868Arg)
NM_015570.4(AUTS2):c.2615C>T (p.Ser872Phe)
NM_015570.4(AUTS2):c.2617A>G (p.Thr873Ala)
NM_015570.4(AUTS2):c.2627T>A (p.Ile876Asn)
NM_015570.4(AUTS2):c.2633C>T (p.Ala878Val)
NM_015570.4(AUTS2):c.2678G>C (p.Arg893Thr)
NM_015570.4(AUTS2):c.2688C>A (p.Asp896Glu)
NM_015570.4(AUTS2):c.2693C>G (p.Ser898Trp) rs534033649
NM_015570.4(AUTS2):c.2696A>C (p.Glu899Ala)
NM_015570.4(AUTS2):c.26G>C (p.Gly9Ala)
NM_015570.4(AUTS2):c.2702G>T (p.Arg901Leu)
NM_015570.4(AUTS2):c.2705A>G (p.Lys902Arg)
NM_015570.4(AUTS2):c.2720A>G (p.Asp907Gly)
NM_015570.4(AUTS2):c.2726A>C (p.His909Pro)
NM_015570.4(AUTS2):c.2728A>G (p.Lys910Glu)
NM_015570.4(AUTS2):c.2732C>T (p.Ala911Val)
NM_015570.4(AUTS2):c.2734_2739dup (p.Lys912_Glu913dup) rs1554488624
NM_015570.4(AUTS2):c.2754G>C (p.Glu918Asp)
NM_015570.4(AUTS2):c.2764C>T (p.His922Tyr)
NM_015570.4(AUTS2):c.2770C>G (p.His924Asp)
NM_015570.4(AUTS2):c.2780G>A (p.Arg927His)
NM_015570.4(AUTS2):c.2782G>A (p.Ala928Thr)
NM_015570.4(AUTS2):c.2785G>A (p.Ala929Thr)
NM_015570.4(AUTS2):c.2789G>A (p.Gly930Asp)
NM_015570.4(AUTS2):c.2794G>A (p.Glu932Lys)
NM_015570.4(AUTS2):c.2801A>C (p.Lys934Thr) rs774580940
NM_015570.4(AUTS2):c.2824C>T (p.Pro942Ser)
NM_015570.4(AUTS2):c.2830G>A (p.Val944Met)
NM_015570.4(AUTS2):c.2833C>T (p.Arg945Trp)
NM_015570.4(AUTS2):c.2843T>C (p.Val948Ala)
NM_015570.4(AUTS2):c.2845G>A (p.Val949Met)
NM_015570.4(AUTS2):c.2849A>G (p.Glu950Gly)
NM_015570.4(AUTS2):c.2855C>A (p.Ala952Asp)
NM_015570.4(AUTS2):c.2873C>T (p.Ser958Leu)
NM_015570.4(AUTS2):c.2893C>T (p.Arg965Cys)
NM_015570.4(AUTS2):c.2894G>T (p.Arg965Leu)
NM_015570.4(AUTS2):c.28C>G (p.Leu10Val) rs1792260350
NM_015570.4(AUTS2):c.2924A>G (p.Lys975Arg) rs2129561583
NM_015570.4(AUTS2):c.2931C>A (p.Ser977Arg) rs373094910
NM_015570.4(AUTS2):c.2938G>A (p.Val980Ile)
NM_015570.4(AUTS2):c.2942A>G (p.Lys981Arg)
NM_015570.4(AUTS2):c.2965G>C (p.Asp989His)
NM_015570.4(AUTS2):c.2972A>C (p.Asp991Ala)
NM_015570.4(AUTS2):c.2973C>A (p.Asp991Glu)
NM_015570.4(AUTS2):c.2975T>A (p.Leu992Gln)
NM_015570.4(AUTS2):c.2983G>C (p.Glu995Gln)
NM_015570.4(AUTS2):c.2990C>G (p.Pro997Arg)
NM_015570.4(AUTS2):c.2990C>T (p.Pro997Leu)
NM_015570.4(AUTS2):c.3014C>T (p.Pro1005Leu)
NM_015570.4(AUTS2):c.3029C>T (p.Ser1010Phe)
NM_015570.4(AUTS2):c.3040G>A (p.Val1014Met)
NM_015570.4(AUTS2):c.3043C>T (p.His1015Tyr)
NM_015570.4(AUTS2):c.3047C>T (p.Pro1016Leu)
NM_015570.4(AUTS2):c.3049G>T (p.Gly1017Trp)
NM_015570.4(AUTS2):c.309+8G>A rs1792285778
NM_015570.4(AUTS2):c.3097C>T (p.Pro1033Ser)
NM_015570.4(AUTS2):c.3115_3159del (p.Ser1039_Ser1053del)
NM_015570.4(AUTS2):c.3119T>C (p.Leu1040Pro)
NM_015570.4(AUTS2):c.3148A>G (p.Met1050Val)
NM_015570.4(AUTS2):c.3151G>A (p.Gly1051Ser)
NM_015570.4(AUTS2):c.3160C>T (p.Pro1054Ser)
NM_015570.4(AUTS2):c.3167C>G (p.Pro1056Arg)
NM_015570.4(AUTS2):c.3167C>T (p.Pro1056Leu) rs766592601
NM_015570.4(AUTS2):c.3169G>A (p.Gly1057Ser) rs1057522609
NM_015570.4(AUTS2):c.316G>A (p.Val106Ile)
NM_015570.4(AUTS2):c.3178C>T (p.Arg1060Cys)
NM_015570.4(AUTS2):c.3182T>C (p.Phe1061Ser)
NM_015570.4(AUTS2):c.3199C>T (p.His1067Tyr)
NM_015570.4(AUTS2):c.319_321dup (p.Ala107_Leu108insAla)
NM_015570.4(AUTS2):c.320C>A (p.Ala107Glu) rs2129540457
NM_015570.4(AUTS2):c.3211_3222del (p.Ile1071_Pro1074del) rs2129561644
NM_015570.4(AUTS2):c.3215G>A (p.Arg1072Gln)
NM_015570.4(AUTS2):c.3224T>C (p.Leu1075Ser) rs2129561649
NM_015570.4(AUTS2):c.3229G>T (p.Asp1077Tyr) rs1791844738
NM_015570.4(AUTS2):c.3243dup (p.Leu1082fs)
NM_015570.4(AUTS2):c.3259A>G (p.Arg1087Gly)
NM_015570.4(AUTS2):c.3277_3278delinsTCTCTGCCCAG (p.Asp1093delinsSerLeuProSer) rs1554489138
NM_015570.4(AUTS2):c.3283del (p.Leu1095fs)
NM_015570.4(AUTS2):c.3299C>T (p.Pro1100Leu) rs555021087
NM_015570.4(AUTS2):c.3302T>C (p.Leu1101Pro) rs1791853397
NM_015570.4(AUTS2):c.3305_3320del (p.His1102fs) rs2129561671
NM_015570.4(AUTS2):c.3322C>T (p.Arg1108Trp)
NM_015570.4(AUTS2):c.3328T>C (p.Tyr1110His) rs2129561677
NM_015570.4(AUTS2):c.3329A>G (p.Tyr1110Cys) rs2129561679
NM_015570.4(AUTS2):c.3330C>A (p.Tyr1110Ter)
NM_015570.4(AUTS2):c.3331G>A (p.Glu1111Lys)
NM_015570.4(AUTS2):c.3337G>A (p.Asp1113Asn)
NM_015570.4(AUTS2):c.3344C>T (p.Ser1115Phe)
NM_015570.4(AUTS2):c.3350G>A (p.Arg1117Lys) rs1226035348
NM_015570.4(AUTS2):c.3360G>T (p.Glu1120Asp)
NM_015570.4(AUTS2):c.3361C>G (p.Pro1121Ala) rs1791861815
NM_015570.4(AUTS2):c.3374_3376dup (p.Ser1125_His1126insArg)
NM_015570.4(AUTS2):c.3377A>G (p.His1126Arg)
NM_015570.4(AUTS2):c.3377ACC[11] (p.His1133_Pro1134insHisHisHis)
NM_015570.4(AUTS2):c.3377ACC[3] (p.His1129_His1133del)
NM_015570.4(AUTS2):c.3377ACC[6] (p.His1132_His1133del) rs538005366
NM_015570.4(AUTS2):c.3378_3379insAGCCACCAC (p.His1126_His1127insSerHisHis)
NM_015570.4(AUTS2):c.337C>T (p.Arg113Cys)
NM_015570.4(AUTS2):c.3381C>A (p.His1127Gln)
NM_015570.4(AUTS2):c.3388C>T (p.His1130Tyr)
NM_015570.4(AUTS2):c.338G>A (p.Arg113His)
NM_015570.4(AUTS2):c.3415C>T (p.Pro1139Ser)
NM_015570.4(AUTS2):c.3418C>T (p.Arg1140Trp)
NM_015570.4(AUTS2):c.3430G>A (p.Glu1144Lys)
NM_015570.4(AUTS2):c.3434G>T (p.Arg1145Leu)
NM_015570.4(AUTS2):c.3437_3457del (p.Gly1146_Arg1152del) rs1064794822
NM_015570.4(AUTS2):c.3457G>C (p.Glu1153Gln)
NM_015570.4(AUTS2):c.3461G>T (p.Arg1154Leu)
NM_015570.4(AUTS2):c.3465dup (p.His1156fs)
NM_015570.4(AUTS2):c.3496C>G (p.Arg1166Gly)
NM_015570.4(AUTS2):c.3497_3498inv (p.Arg1166Pro)
NM_015570.4(AUTS2):c.3518C>T (p.Ala1173Val)
NM_015570.4(AUTS2):c.3527_3529del (p.Asp1176del) rs763668824
NM_015570.4(AUTS2):c.3529G>A (p.Gly1177Arg)
NM_015570.4(AUTS2):c.3559C>T (p.Pro1187Ser)
NM_015570.4(AUTS2):c.3568C>T (p.Pro1190Ser)
NM_015570.4(AUTS2):c.3587G>C (p.Arg1196Pro)
NM_015570.4(AUTS2):c.3599C>T (p.Thr1200Ile)
NM_015570.4(AUTS2):c.3604G>A (p.Gly1202Ser)
NM_015570.4(AUTS2):c.3616G>A (p.Gly1206Arg)
NM_015570.4(AUTS2):c.3617G>A (p.Gly1206Glu) rs1159680916
NM_015570.4(AUTS2):c.3624CAA[1] (p.Asn1209del)
NM_015570.4(AUTS2):c.3643G>A (p.Ala1215Thr)
NM_015570.4(AUTS2):c.3645del (p.Ala1216fs)
NM_015570.4(AUTS2):c.3650T>C (p.Leu1217Pro)
NM_015570.4(AUTS2):c.3665C>A (p.Pro1222Gln) rs1336239612
NM_015570.4(AUTS2):c.3665C>T (p.Pro1222Leu)
NM_015570.4(AUTS2):c.3682G>A (p.Gly1228Arg)
NM_015570.4(AUTS2):c.3686_3687delinsTT (p.Gly1229Val)
NM_015570.4(AUTS2):c.3686dup (p.Arg1230fs)
NM_015570.4(AUTS2):c.3694G>T (p.Val1232Phe)
NM_015570.4(AUTS2):c.3704G>A (p.Arg1235Lys)
NM_015570.4(AUTS2):c.3707G>A (p.Arg1236Lys) rs201704456
NM_015570.4(AUTS2):c.3761A>G (p.Lys1254Arg)
NM_015570.4(AUTS2):c.3763G>A (p.Asp1255Asn)
NM_015570.4(AUTS2):c.377G>A (p.Arg126Gln)
NM_015570.4(AUTS2):c.382G>A (p.Ala128Thr)
NM_015570.4(AUTS2):c.40C>T (p.Arg14Trp)
NM_015570.4(AUTS2):c.419G>A (p.Ser140Asn)
NM_015570.4(AUTS2):c.41_46dup (p.Arg15_Ser16insTrpArg) rs2129067329
NM_015570.4(AUTS2):c.427A>G (p.Ser143Gly)
NM_015570.4(AUTS2):c.445A>G (p.Ser149Gly)
NM_015570.4(AUTS2):c.451G>T (p.Asp151Tyr)
NM_015570.4(AUTS2):c.454C>G (p.Arg152Gly)
NM_015570.4(AUTS2):c.457G>C (p.Glu153Gln)
NM_015570.4(AUTS2):c.462T>G (p.Asn154Lys) rs1064796898
NM_015570.4(AUTS2):c.466C>A (p.Arg156Ser)
NM_015570.4(AUTS2):c.466C>T (p.Arg156Cys)
NM_015570.4(AUTS2):c.467G>T (p.Arg156Leu)
NM_015570.4(AUTS2):c.476G>T (p.Cys159Phe)
NM_015570.4(AUTS2):c.50G>T (p.Arg17Leu)
NM_015570.4(AUTS2):c.511G>A (p.Ala171Thr)
NM_015570.4(AUTS2):c.521A>G (p.Gln174Arg)
NM_015570.4(AUTS2):c.522+32G>A
NM_015570.4(AUTS2):c.522+6G>C
NM_015570.4(AUTS2):c.545G>A (p.Cys182Tyr) rs2129572624
NM_015570.4(AUTS2):c.593A>C (p.His198Pro)
NM_015570.4(AUTS2):c.596G>A (p.Arg199Gln)
NM_015570.4(AUTS2):c.608G>A (p.Arg203Gln)
NM_015570.4(AUTS2):c.625-5T>C
NM_015570.4(AUTS2):c.626G>A (p.Ser209Asn)
NM_015570.4(AUTS2):c.646G>C (p.Gly216Arg)
NM_015570.4(AUTS2):c.64C>T (p.Arg22Trp) rs1263138285
NM_015570.4(AUTS2):c.659T>A (p.Phe220Tyr)
NM_015570.4(AUTS2):c.660C>T (p.Phe220=)
NM_015570.4(AUTS2):c.661-145315del
NM_015570.4(AUTS2):c.661-145320A>G rs2129611852
NM_015570.4(AUTS2):c.681G>C (p.Gln227His)
NM_015570.4(AUTS2):c.700G>A (p.Ala234Thr)
NM_015570.4(AUTS2):c.718_720del (p.Phe240del)
NM_015570.4(AUTS2):c.721A>G (p.Asn241Asp)
NM_015570.4(AUTS2):c.740A>G (p.Lys247Arg)
NM_015570.4(AUTS2):c.742G>A (p.Asp248Asn)
NM_015570.4(AUTS2):c.743A>T (p.Asp248Val)
NM_015570.4(AUTS2):c.746C>T (p.Pro249Leu)
NM_015570.4(AUTS2):c.754G>C (p.Gly252Arg) rs145046813
NM_015570.4(AUTS2):c.761G>T (p.Gly254Val)
NM_015570.4(AUTS2):c.772G>C (p.Glu258Gln)
NM_015570.4(AUTS2):c.790G>T (p.Ala264Ser)
NM_015570.4(AUTS2):c.793G>A (p.Gly265Arg)
NM_015570.4(AUTS2):c.823_828del (p.Glu275_Arg276del)
NM_015570.4(AUTS2):c.825G>C (p.Glu275Asp)
NM_015570.4(AUTS2):c.835G>A (p.Glu279Lys) rs2129556952
NM_015570.4(AUTS2):c.886A>G (p.Lys296Glu)
NM_015570.4(AUTS2):c.890A>G (p.Asp297Gly)
NM_015570.4(AUTS2):c.892C>T (p.Pro298Ser)
NM_015570.4(AUTS2):c.902A>G (p.Gln301Arg)
NM_015570.4(AUTS2):c.905T>C (p.Val302Ala)
NM_015570.4(AUTS2):c.930G>C (p.Gln310His)
NM_015570.4(AUTS2):c.955_957del (p.Ser319del)
NM_015570.4(AUTS2):c.959C>T (p.Pro320Leu)
NM_015570.4(AUTS2):c.962A>G (p.Asp321Gly)
NM_015570.4(AUTS2):c.977A>G (p.Gln326Arg)
NM_015570.4(AUTS2):c.982A>G (p.Thr328Ala)
NM_015570.4(AUTS2):c.988G>A (p.Ala330Thr) rs1064797335
NM_015570.4(AUTS2):c.995C>A (p.Pro332His) rs757432625
Single allele

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