ClinVar Miner

List of variants reported as uncertain significance by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 65
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HGVS dbSNP
NM_000021.4(PSEN1):c.514_516TTG[1] (p.Leu174del)
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) rs758622234
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000059.3(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301
NM_000157.4(GBA):c.835C>G (p.Leu279Val) rs1057519020
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
NM_000249.4(MLH1):c.884+6G>A
NM_000267.3(NF1):c.6755A>G (p.Lys2252Arg) rs1060500344
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) rs773107370
NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro) rs200720341
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000404.4(GLB1):c.253C>A (p.Pro85Thr)
NM_000404.4(GLB1):c.495_497del (p.Leu166del)
NM_000404.4(GLB1):c.545C>G (p.Thr182Arg)
NM_000430.4(PAFAH1B1):c.118-11_118-7del rs1555526298
NM_000492.4(CFTR):c.3468+6T>C rs547442588
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557
NM_001098511.2(KIF2A):c.382T>C (p.Ser128Pro) rs138408434
NM_001127178.3(PIGG):c.1830T>A (p.Cys610Ter) rs1560343436
NM_001127487.2(FLNC):c.6988G>A (p.Asp2330Asn) rs1554401490
NM_001128849.2(SMARCA4):c.5000A>G (p.Gln1667Arg) rs1568566518
NM_001130987.2(DYSF):c.1493+2dup rs753885022
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) rs1057518671
NM_001235.4(SERPINH1):c.1214G>A (p.Arg405His) rs781125078
NM_001256047.1(C19orf12):c.46T>C (p.Ser16Pro) rs1568332606
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg) rs1555465003
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) rs367567630
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe) rs1555938741
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)
NM_001365276.2(TNXB):c.3002C>T (p.Pro1001Leu) rs768607753
NM_001365536.1(SCN9A):c.1844A>G (p.Asn615Ser) rs780995899
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp) rs574115531
NM_001458.4(FLNC):c.6200G>A (p.Arg2067His) rs776520014
NM_001848.3(COL6A1):c.850G>A rs121912938
NM_001849.4(COL6A2):c.2795C>T rs117725825
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln) rs757161476
NM_002335.4(LRP5):c.4488G>A (p.Pro1496=) rs1565118560
NM_002641.3(PIGA):c.247C>G (p.Leu83Val) rs1335237092
NM_003718.5(CDK13):c.4097G>A (p.Arg1366His) rs3801237
NM_003849.4(SUCLG1):c.443C>T (p.Pro148Leu) rs1331661730
NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) rs128626249
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys) rs121964873
NM_004980.4(KCND3):c.257G>A (p.Arg86Gln)
NM_006920.6(SCN1A):c.602+1G>A rs794726827
NM_012179.3(FBXO7):c.[274G>C];[520T>A]
NM_014297.5(ETHE1):c.417T>G (p.Cys139Trp) rs1472850646
NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr) rs764516811
NM_015166.3(MLC1):c.177+5G>A rs1555968723
NM_018105.3(THAP1):c.427A>G (p.Met143Val) rs374512193
NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter) rs371584776
NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]
NM_020928.2(ZSWIM6):c.407G>T (p.Gly136Val)
NM_022089.4(ATP13A2):c.859G>A (p.Asp287Asn)
NM_024989.4(PGAP1):c.2286+5G>A rs937847069
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.442+5G>T
NM_032043.3(BRIP1):c.1897A>C rs765314472
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_152778.3(MFSD8):c.268G>C (p.Ala90Pro) rs1553950970
NM_152778.3(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_153033.4(KCTD7):c.302G>A (p.Gly101Asp) rs1554397831
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser) rs397514568
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp) rs149636063

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