ClinVar Miner

List of variants in gene LARS2 studied for Perrault syndrome 4

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_015340.4(LARS2):c.2358A>G (p.Val786=) rs267220 0.87505
NM_015340.4(LARS2):c.2169T>C (p.Ala723=) rs2170549 0.85995
NM_015340.4(LARS2):c.1053T>C (p.Leu351=) rs7610357 0.78771
NM_015340.4(LARS2):c.1455G>A (p.Ala485=) rs2128361 0.78756
NM_015340.4(LARS2):c.1760+12T>C rs2306522 0.50630
NM_015340.4(LARS2):c.1983G>A (p.Thr661=) rs11549809 0.26851
NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp) rs9827689 0.01205
NM_015340.4(LARS2):c.2602G>A (p.Glu868Lys) rs34965084 0.00260
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp) rs138121304 0.00029
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys) rs142215302 0.00015
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys) rs376296747 0.00003
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met) rs141097216 0.00002
NM_015340.4(LARS2):c.1670A>G (p.Tyr557Cys) rs1269970737 0.00001
NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp) rs772859137 0.00001
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) rs398123036 0.00001
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp) rs774649299 0.00001
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys) rs749627411 0.00001
NM_015340.4(LARS2):c.899C>T (p.Thr300Met) rs864309642 0.00001
NM_015340.3(LARS2):c.[1912G>A];[899C>T]
NM_015340.4(LARS2):c.1077del (p.Ile360fs) rs398123037
NM_015340.4(LARS2):c.1079T>C (p.Ile360Thr)
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter) rs1559484149
NM_015340.4(LARS2):c.1193T>C (p.Ile398Thr)
NM_015340.4(LARS2):c.1239+1G>A
NM_015340.4(LARS2):c.1249A>G (p.Met417Val)
NM_015340.4(LARS2):c.1291C>T (p.Arg431Trp)
NM_015340.4(LARS2):c.1334_1335del (p.Lys445fs)
NM_015340.4(LARS2):c.1498G>T (p.Glu500Ter)
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu) rs1575292827
NM_015340.4(LARS2):c.1623-1G>T
NM_015340.4(LARS2):c.1783del (p.Ala595fs) rs2125750668
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys) rs864309643
NM_015340.4(LARS2):c.1922G>A (p.Ser641Asn)
NM_015340.4(LARS2):c.1979A>T (p.Asp660Val) rs1348647519
NM_015340.4(LARS2):c.2072G>A (p.Trp691Ter)
NM_015340.4(LARS2):c.2218del (p.Thr740fs)
NM_015340.4(LARS2):c.2269A>T (p.Met757Leu) rs1478071728
NM_015340.4(LARS2):c.2285C>A (p.Ala762Asp) rs868411376
NM_015340.4(LARS2):c.235-2A>G
NM_015340.4(LARS2):c.2585_2589dup (p.Asp864fs)
NM_015340.4(LARS2):c.2608G>T (p.Val870Phe)
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile) rs776171893
NM_015340.4(LARS2):c.41_42del (p.Leu14fs) rs1698009919
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro) rs536853368
NM_015340.4(LARS2):c.457A>C (p.Asn153His) rs786205560
NM_015340.4(LARS2):c.683G>A (p.Arg228His) rs770440975
NM_015340.4(LARS2):c.764C>T (p.Ala255Val)
NM_015340.4(LARS2):c.795A>G (p.Ile265Met)

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