ClinVar Miner

List of variants in gene AUTS2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.2807T>C (p.Leu936Pro) rs1471720771 0.00005
NM_015570.4(AUTS2):c.1342C>T (p.Leu448Phe) rs371714496 0.00004
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser) rs1051952947 0.00004
NM_015570.4(AUTS2):c.1902+4C>T rs377220148 0.00003
NM_015570.4(AUTS2):c.2375C>T (p.Pro792Leu) rs201841605 0.00003
NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys) rs749784668 0.00003
NM_015570.4(AUTS2):c.3014C>T (p.Pro1005Leu) rs750470894 0.00003
NM_015570.4(AUTS2):c.3043C>T (p.His1015Tyr) rs144860288 0.00003
NM_015570.4(AUTS2):c.982A>G (p.Thr328Ala) rs140281219 0.00003
NM_015570.4(AUTS2):c.1384C>T (p.Pro462Ser) rs772174582 0.00001
NM_015570.4(AUTS2):c.1999G>A (p.Val667Ile) rs959384891 0.00001
NM_015570.4(AUTS2):c.2335G>A (p.Asp779Asn) rs147106727 0.00001
NM_015570.4(AUTS2):c.2339G>A (p.Gly780Asp) rs367838374 0.00001
NM_015570.4(AUTS2):c.2785G>A (p.Ala929Thr) rs1340261250 0.00001
NM_015570.4(AUTS2):c.2819C>T (p.Pro940Leu) rs764683823 0.00001
NM_015570.4(AUTS2):c.2900G>A (p.Gly967Asp) rs1421472648 0.00001
NM_015570.4(AUTS2):c.3002G>A (p.Arg1001Gln) rs1266287610 0.00001
NM_015570.4(AUTS2):c.3074C>T (p.Thr1025Met) rs758531526 0.00001
NM_015570.4(AUTS2):c.3134T>C (p.Met1045Thr) rs1395540395 0.00001
NM_015570.4(AUTS2):c.3298C>G (p.Pro1100Ala) rs763284520 0.00001
NM_015570.4(AUTS2):c.3688C>T (p.Arg1230Cys) rs752771406 0.00001
NM_015570.4(AUTS2):c.3724G>A (p.Ala1242Thr) rs747651759 0.00001
NM_015570.4(AUTS2):c.3752A>G (p.His1251Arg) rs2485004614 0.00001
NM_015570.4(AUTS2):c.557A>G (p.Asp186Gly) rs1394236279 0.00001
NM_015570.4(AUTS2):c.1036C>T (p.Pro346Ser) rs1005352416
NM_015570.4(AUTS2):c.1053G>T (p.Gln351His) rs1223142286
NM_015570.4(AUTS2):c.1094A>T (p.Gln365Leu) rs2484641175
NM_015570.4(AUTS2):c.1154A>G (p.Gln385Arg)
NM_015570.4(AUTS2):c.1177G>C (p.Ala393Pro) rs569780077
NM_015570.4(AUTS2):c.1594_1623del (p.Gln532_His541del) rs1554481768
NM_015570.4(AUTS2):c.16C>T (p.Arg6Trp) rs1368494641
NM_015570.4(AUTS2):c.1858C>T (p.Arg620Trp) rs577323013
NM_015570.4(AUTS2):c.2027A>C (p.His676Pro) rs2484861267
NM_015570.4(AUTS2):c.2119C>T (p.Arg707Trp) rs748925591
NM_015570.4(AUTS2):c.2165G>A (p.Gly722Glu)
NM_015570.4(AUTS2):c.2227C>G (p.Pro743Ala) rs2484918846
NM_015570.4(AUTS2):c.2347G>A (p.Val783Met)
NM_015570.4(AUTS2):c.2371G>A (p.Glu791Lys) rs1479195481
NM_015570.4(AUTS2):c.2383C>T (p.Arg795Trp) rs779121870
NM_015570.4(AUTS2):c.2450G>A (p.Arg817His) rs150219264
NM_015570.4(AUTS2):c.2455G>T (p.Ala819Ser)
NM_015570.4(AUTS2):c.2481T>G (p.Asp827Glu)
NM_015570.4(AUTS2):c.2481_2482del (p.Asp827fs) rs1791577285
NM_015570.4(AUTS2):c.2592T>G (p.Asn864Lys)
NM_015570.4(AUTS2):c.2654G>C (p.Arg885Pro)
NM_015570.4(AUTS2):c.2686_2687del (p.Asp896fs) rs1554488565
NM_015570.4(AUTS2):c.26G>A (p.Gly9Glu) rs1792260195
NM_015570.4(AUTS2):c.2719G>A (p.Asp907Asn)
NM_015570.4(AUTS2):c.2840C>T (p.Pro947Leu)
NM_015570.4(AUTS2):c.2854G>A (p.Ala952Thr) rs1791798264
NM_015570.4(AUTS2):c.2873C>T (p.Ser958Leu)
NM_015570.4(AUTS2):c.2894G>C (p.Arg965Pro) rs565156541
NM_015570.4(AUTS2):c.2921C>G (p.Pro974Arg) rs778048697
NM_015570.4(AUTS2):c.2936A>T (p.Glu979Val) rs1791810429
NM_015570.4(AUTS2):c.2957G>A (p.Arg986Gln)
NM_015570.4(AUTS2):c.3130C>T (p.Arg1044Cys)
NM_015570.4(AUTS2):c.3209C>G (p.Pro1070Arg)
NM_015570.4(AUTS2):c.3211_3222del (p.Ile1071_Pro1074del) rs2129561644
NM_015570.4(AUTS2):c.3250A>G (p.Ile1084Val)
NM_015570.4(AUTS2):c.3380A>C (p.His1127Pro) rs1791866420
NM_015570.4(AUTS2):c.3394C>G (p.His1132Asp) rs2484995274
NM_015570.4(AUTS2):c.3401C>T (p.Pro1134Leu)
NM_015570.4(AUTS2):c.3419G>T (p.Arg1140Leu) rs145671325
NM_015570.4(AUTS2):c.3430G>A (p.Glu1144Lys) rs1791874163
NM_015570.4(AUTS2):c.3434G>T (p.Arg1145Leu) rs371317370
NM_015570.4(AUTS2):c.3446T>A (p.Leu1149Gln) rs1585703457
NM_015570.4(AUTS2):c.3496C>G (p.Arg1166Gly) rs1168188278
NM_015570.4(AUTS2):c.3517G>A (p.Ala1173Thr) rs1585703712
NM_015570.4(AUTS2):c.353A>G (p.Gln118Arg)
NM_015570.4(AUTS2):c.3560C>G (p.Pro1187Arg) rs1554489359
NM_015570.4(AUTS2):c.3617G>A (p.Gly1206Glu) rs1159680916
NM_015570.4(AUTS2):c.3620T>C (p.Leu1207Pro) rs1554489424
NM_015570.4(AUTS2):c.3705A>C (p.Arg1235Ser) rs1221405020
NM_015570.4(AUTS2):c.3721T>A (p.Ser1241Thr)
NM_015570.4(AUTS2):c.44G>T (p.Arg15Leu)
NM_015570.4(AUTS2):c.451G>T (p.Asp151Tyr) rs1351773247
NM_015570.4(AUTS2):c.571A>C (p.Ser191Arg) rs1294319675
NM_015570.4(AUTS2):c.595C>T (p.Arg199Trp)
NM_015570.4(AUTS2):c.650C>G (p.Thr217Arg)
NM_015570.4(AUTS2):c.725C>T (p.Thr242Ile)
NM_015570.4(AUTS2):c.926C>A (p.Pro309Gln)

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