ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.3416C>T (p.Pro1139Leu) rs762069191 0.00001
NM_015570.4(AUTS2):c.1036C>T (p.Pro346Ser) rs1005352416
NM_015570.4(AUTS2):c.1053G>T (p.Gln351His)
NM_015570.4(AUTS2):c.1177G>C (p.Ala393Pro)
NM_015570.4(AUTS2):c.1384C>T (p.Pro462Ser)
NM_015570.4(AUTS2):c.1594_1623del (p.Gln532_His541del) rs1554481768
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.16C>T (p.Arg6Trp)
NM_015570.4(AUTS2):c.1902+4C>T
NM_015570.4(AUTS2):c.2027A>C (p.His676Pro)
NM_015570.4(AUTS2):c.2119C>T (p.Arg707Trp)
NM_015570.4(AUTS2):c.2227C>G (p.Pro743Ala)
NM_015570.4(AUTS2):c.2339G>A (p.Gly780Asp)
NM_015570.4(AUTS2):c.2383C>T (p.Arg795Trp)
NM_015570.4(AUTS2):c.2450G>A (p.Arg817His)
NM_015570.4(AUTS2):c.2481_2482del (p.Asp827fs) rs1791577285
NM_015570.4(AUTS2):c.2686_2687del (p.Asp896fs) rs1554488565
NM_015570.4(AUTS2):c.2791G>A (p.Glu931Lys)
NM_015570.4(AUTS2):c.2807T>C (p.Leu936Pro)
NM_015570.4(AUTS2):c.2854G>A (p.Ala952Thr)
NM_015570.4(AUTS2):c.2900G>A (p.Gly967Asp)
NM_015570.4(AUTS2):c.2921C>G (p.Pro974Arg)
NM_015570.4(AUTS2):c.3002G>A (p.Arg1001Gln)
NM_015570.4(AUTS2):c.3014C>T (p.Pro1005Leu)
NM_015570.4(AUTS2):c.3074C>T (p.Thr1025Met)
NM_015570.4(AUTS2):c.3134T>C (p.Met1045Thr)
NM_015570.4(AUTS2):c.3211_3222del (p.Ile1071_Pro1074del) rs2129561644
NM_015570.4(AUTS2):c.3380A>C (p.His1127Pro)
NM_015570.4(AUTS2):c.3394C>G (p.His1132Asp)
NM_015570.4(AUTS2):c.3446T>A (p.Leu1149Gln)
NM_015570.4(AUTS2):c.3496C>G (p.Arg1166Gly)
NM_015570.4(AUTS2):c.3517G>A (p.Ala1173Thr)
NM_015570.4(AUTS2):c.3560C>G (p.Pro1187Arg) rs1554489359
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.3752A>G (p.His1251Arg)
NM_015570.4(AUTS2):c.557A>G (p.Asp186Gly)
NM_015570.4(AUTS2):c.571A>C (p.Ser191Arg)

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