ClinVar Miner

List of variants reported as uncertain significance for aortic disease by Centre for Mendelian Genomics,University Medical Centre Ljubljana

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
GRCh37/hg19 1p36.21(chr1:13801823-14012604)
NM_000089.4(COL1A2):c.71-6C>A
NM_000092.5(COL4A4):c.736-4del
NM_000138.4(FBN1):c.139G>A (p.Gly47Ser) rs762400500
NM_000141.5(FGFR2):c.2152G>C (p.Glu718Gln)
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) rs758520331
NM_000371.4(TTR):c.69+5G>C
NM_000393.5(COL5A2):c.2955A>G (p.Pro985=)
NM_000501.4(ELN):c.893T>C (p.Val298Ala)
NM_001008212.2(OPTN):c.1242+327C>T
NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp)
NM_001318852.2(MAPK8IP3):c.3461C>G (p.Ala1154Gly)
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr)
NM_001844.5(COL2A1):c.3575G>A (p.Arg1192Gln)
NM_003242.6(TGFBR2):c.1471G>A (p.Val491Met) rs754176932
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) rs144513891
NM_004415.4(DSP):c.5692G>A (p.Glu1898Lys)
NM_005199.5(CHRNG):c.250G>A (p.Asp84Asn) rs771588131
NM_005902.4(SMAD3):c.281G>T (p.Trp94Leu) rs1057518977
NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys)
NM_014694.4(ADAMTSL2):c.475C>T (p.Arg159Trp)
NM_014694.4(ADAMTSL2):c.845C>T (p.Thr282Met)
NM_016203.4(PRKAG2):c.413C>G (p.Ser138Cys)
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met) rs377294245
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln)
NM_022039.4(FBXW4):c.1663_1664del (p.Leu555fs)
NM_022039.4(FBXW4):c.1673_1679dup (p.His560fs)
NM_024009.3(GJB3):c.79G>A (p.Val27Met)
NM_138295.5(PKD1L1):c.1060+4del
NM_138295.5(PKD1L1):c.2454-18C>G

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