List of variants reported as uncertain significance for autosomal recessive disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 113

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HGVS	dbSNP	gnomAD frequency
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)	rs55791823	0.00277
NM_000302.4(PLOD1):c.77-3358C>T	rs534978828	0.00153
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser)	rs376451611	0.00132
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala)	rs145163157	0.00131
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)	rs144320036	0.00104
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala)	rs201730395	0.00103
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)	rs149090172	0.00103
NM_001127671.2(LIFR):c.553G>A (p.Val185Ile)	rs140538535	0.00097
NM_001379180.1(ESRRB):c.*1546C>T	rs201448899	0.00088
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu)	rs58625281	0.00087
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala)	rs148410446	0.00085
NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)	rs61734338	0.00083
NM_152617.4(RNF168):c.529G>A (p.Glu177Lys)	rs112513009	0.00080
NM_014797.3(ZBTB24):c.1750A>T (p.Met584Leu)	rs139491074	0.00078
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys)	rs184043065	0.00078
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)	rs112250644	0.00077
NM_018063.5(HELLS):c.1258C>G (p.Leu420Val)	rs146569050	0.00069
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val)	rs61751710	0.00068
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu)	rs145448362	0.00065
NM_000302.4(PLOD1):c.785C>T (p.Thr262Ile)	rs147940796	0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln)	rs201673771	0.00058
NM_020247.5(COQ8A):c.67G>A (p.Val23Met)	rs35582308	0.00058
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile)	rs149425237	0.00057
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr)	rs142830104	0.00057
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)	rs35130237	0.00056
NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu)	rs148664975	0.00056
NM_001199799.2(ILDR1):c.1297C>T (p.Arg433Trp)	rs140567004	0.00050
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)	rs201819880	0.00048
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg)	rs199619932	0.00048
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)	rs199917289	0.00045
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)	rs199644216	0.00043
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu)	rs142486910	0.00042
NM_016938.5(EFEMP2):c.728-3C>T	rs377139656	0.00041
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)	rs201689819	0.00036
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)	rs145191532	0.00034
NM_017433.5(MYO3A):c.426T>G (p.His142Gln)	rs189595832	0.00029
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)	rs540292629	0.00026
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln)	rs199783506	0.00026
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His)	rs199621031	0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu)	rs189895472	0.00026
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)	rs116214830	0.00025
NM_001039213.4(CEACAM16):c.520G>A (p.Ala174Thr)	rs750153629	0.00019
NM_152617.4(RNF168):c.1019C>T (p.Ser340Leu)	rs187146687	0.00017
NM_203486.3(DLL3):c.1376A>T (p.Tyr459Phe)	rs572290101	0.00017
NM_001127453.2(GSDME):c.325G>A (p.Val109Ile)	rs202227661	0.00015
NM_017433.5(MYO3A):c.3398+3A>G	rs373758358	0.00015
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)	rs140058160	0.00014
NM_031475.3(ESPN):c.935C>T (p.Ser312Leu)	rs189442618	0.00012
NM_000232.5(SGCB):c.152G>A (p.Arg51His)	rs143751283	0.00010
NM_000320.3(QDPR):c.29C>T (p.Ala10Val)	rs371735382	0.00010
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)	rs201329880	0.00008
NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn)	rs376526613	0.00007
NM_000231.3(SGCG):c.824C>T (p.Ser275Phe)	rs780747031	0.00005
NM_001039213.4(CEACAM16):c.565C>T (p.His189Tyr)	rs370890913	0.00005
NM_000211.5(ITGB2):c.221C>T (p.Ala74Val)	rs201354221	0.00004
NM_000302.4(PLOD1):c.109G>A (p.Glu37Lys)	rs369263247	0.00004
NM_000302.4(PLOD1):c.805G>A (p.Val269Met)	rs145447578	0.00004
NM_001128228.3(TPRN):c.1725+5G>A	rs373827566	0.00004
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met)	rs770710016	0.00003
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met)	rs772139596	0.00003
NM_000232.5(SGCB):c.850C>T (p.Arg284Cys)	rs545065102	0.00002
NM_000302.4(PLOD1):c.2099A>G (p.His700Arg)	rs773756799	0.00002
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)	rs377034463	0.00002
NM_016239.4(MYO15A):c.5261G>A (p.Arg1754His)	rs544020493	0.00002
NM_016938.5(EFEMP2):c.554G>A (p.Arg185His)	rs143662598	0.00002
NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu)	rs113382706	0.00002
NM_203486.3(DLL3):c.1187C>T (p.Ala396Val)	rs747708804	0.00002
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys)	rs191040430	0.00001
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp)	rs771186398	0.00001
NM_000302.4(PLOD1):c.677T>C (p.Val226Ala)	rs376643174	0.00001
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala)	rs761024368	0.00001
NM_001128228.3(TPRN):c.1696C>T (p.Leu566Phe)	rs201404168	0.00001
NM_001146079.2(CLDN14):c.430G>A (p.Val144Met)	rs764077250	0.00001
NM_016938.5(EFEMP2):c.460G>A (p.Gly154Ser)	rs377199919	0.00001
NM_018249.6(CDK5RAP2):c.5141C>T (p.Thr1714Ile)	rs1399085671	0.00001
NM_203486.3(DLL3):c.409+6T>C	rs995675341	0.00001
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NM_000302.4(PLOD1):c.2069G>A (p.Arg690Gln)	rs886045208
NM_000302.4(PLOD1):c.323C>T (p.Ser108Leu)	rs549517196
NM_000302.4(PLOD1):c.4C>T (p.Arg2Trp)	rs1402614845
NM_000302.4(PLOD1):c.736A>T (p.Thr246Ser)
NM_000302.4(PLOD1):c.77-3403T>C	rs1645637106
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT	rs541980281
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr)	rs200018583
NM_001127671.2(LIFR):c.2807G>A (p.Arg936His)
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)	rs3729751
NM_001134831.2(AHI1):c.*1A>C
NM_001134831.2(AHI1):c.3109+6788A>C
NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His)
NM_001510.4(GRID2):c.101A>G (p.Asp34Gly)
NM_002906.4(RDX):c.1501T>C (p.Ser501Pro)
NM_004153.4(ORC1):c.521C>T (p.Ala174Val)
NM_006019.4(TCIRG1):c.1073C>T (p.Pro358Leu)	rs2134445007
NM_006618.5(KDM5B):c.712-4del	rs558975598
NM_006736.6(DNAJB2):c.233C>T (p.Thr78Ile)	rs1951908601
NM_006736.6(DNAJB2):c.928C>T (p.Arg310Cys)
NM_006996.3(SLC19A2):c.30GGC[5] (p.Ala16del)
NM_014889.4(PITRM1):c.1634G>A (p.Arg545Gln)
NM_016239.4(MYO15A):c.3358C>T (p.Arg1120Cys)	rs375451997
NM_016239.4(MYO15A):c.458A>G (p.Gln153Arg)	rs1597748342
NM_016239.4(MYO15A):c.6550T>C (p.Cys2184Arg)	rs1567649779
NM_016938.5(EFEMP2):c.157C>T (p.Arg53Trp)	rs936904481
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)	rs77389229
NM_017721.5(CC2D1A):c.2405C>T (p.Thr802Met)
NM_018389.5(SLC35C1):c.847G>A (p.Val283Met)
NM_020247.5(COQ8A):c.1285T>C (p.Tyr429His)	rs2148132744
NM_022834.5(VWA1):c.1312C>A (p.Pro438Thr)
NM_030943.4(AMN):c.44-7_44-5del	rs774101952
NM_031942.5(CDCA7):c.547T>C (p.Ser183Pro)
NM_177400.3(NKX6-2):c.305G>T (p.Gly102Val)
NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu)	rs777442783
NM_203486.3(DLL3):c.221A>C (p.Glu74Ala)	rs1600751637
NM_203486.3(DLL3):c.982G>T (p.Val328Phe)	rs749513254

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