ClinVar Miner

List of variants reported as uncertain significance for Marinesco-Sjögren syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_022464.5(SIL1):c.310C>G (p.Leu104Val) rs150892227 0.00018
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro) rs142987777 0.00018
NM_022464.5(SIL1):c.103C>G (p.Leu35Val) rs759591537 0.00011
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438 0.00010
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro) rs185697854 0.00009
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met) rs372399027 0.00008
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro) rs563414935 0.00004
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln) rs761095369 0.00003
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys) rs779649580 0.00003
NM_022464.5(SIL1):c.355C>G (p.Leu119Val) rs758512287 0.00003
NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp) rs727504153 0.00001
NM_022464.5(SIL1):c.272T>C (p.Val91Ala) rs1461916800 0.00001
NM_022464.5(SIL1):c.599A>G (p.Glu200Gly) rs879437180 0.00001
NM_022464.5(SIL1):c.648G>C (p.Met216Ile) rs538181924 0.00001
NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro)
NM_022464.5(SIL1):c.1010A>G (p.Tyr337Cys)
NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del)
NM_022464.5(SIL1):c.1029G>A (p.Lys343=)
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr) rs377150029
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
NM_022464.5(SIL1):c.1066A>G (p.Met356Val)
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg) rs1021273983
NM_022464.5(SIL1):c.1138G>A (p.Glu380Lys)
NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)
NM_022464.5(SIL1):c.115G>T (p.Ala39Ser)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.1238G>T (p.Arg413Leu)
NM_022464.5(SIL1):c.1247C>A (p.Pro416His)
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser) rs398124389
NM_022464.5(SIL1):c.125A>C (p.Asn42Thr)
NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)
NM_022464.5(SIL1):c.1316A>G (p.Asp439Gly)
NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)
NM_022464.5(SIL1):c.166A>G (p.Thr56Ala)
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
NM_022464.5(SIL1):c.1A>G (p.Met1Val) rs573588795
NM_022464.5(SIL1):c.205G>A (p.Val69Met)
NM_022464.5(SIL1):c.211C>T (p.His71Tyr)
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.238C>A (p.Gln80Lys)
NM_022464.5(SIL1):c.271G>A (p.Val91Ile)
NM_022464.5(SIL1):c.275G>A (p.Arg92Gln)
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
NM_022464.5(SIL1):c.354-3C>A
NM_022464.5(SIL1):c.355C>T (p.Leu119=)
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
NM_022464.5(SIL1):c.435G>C (p.Glu145Asp)
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
NM_022464.5(SIL1):c.46A>C (p.Met16Leu)
NM_022464.5(SIL1):c.487C>A (p.Pro163Thr)
NM_022464.5(SIL1):c.554T>C (p.Met185Thr)
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
NM_022464.5(SIL1):c.570C>G (p.Asn190Lys)
NM_022464.5(SIL1):c.599A>C (p.Glu200Ala)
NM_022464.5(SIL1):c.59T>C (p.Leu20Pro)
NM_022464.5(SIL1):c.614C>T (p.Ala205Val)
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.670T>A (p.Ser224Thr)
NM_022464.5(SIL1):c.694A>G (p.Ile232Val)
NM_022464.5(SIL1):c.698A>G (p.Asn233Ser)
NM_022464.5(SIL1):c.773C>T (p.Pro258Leu)
NM_022464.5(SIL1):c.815A>G (p.Lys272Arg)
NM_022464.5(SIL1):c.836C>T (p.Thr279Met) rs535287958
NM_022464.5(SIL1):c.845C>T (p.Pro282Leu)
NM_022464.5(SIL1):c.907G>A (p.Ala303Thr)
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
NM_022464.5(SIL1):c.914G>A (p.Arg305Gln)
NM_022464.5(SIL1):c.91A>G (p.Ser31Gly)
NM_022464.5(SIL1):c.931G>A (p.Gly311Arg)
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
NM_022464.5(SIL1):c.986C>G (p.Ala329Gly)
NM_022464.5(SIL1):c.988G>A (p.Val330Met)

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