ClinVar Miner

List of variants reported as likely pathogenic for Connective tissue disorder

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_025132.4(WDR19):c.3565+1G>A rs587777352 0.00004
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558 0.00001
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) rs756434709 0.00001
NM_000093.5(COL5A1):c.841del (p.Glu281fs) rs1554787779
NM_000112.4(SLC26A2):c.1487_1488insGGCG (p.Lys497fs) rs2113698812
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys) rs794728188
NM_000138.5(FBN1):c.4725_4726insTACACATCCTTGTGAG (p.Met1576delinsTyrThrSerLeuTer) rs2141272274
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5999G>T (p.Cys2000Phe) rs1555395645
NM_000346.4(SOX9):c.1132C>T (p.Gln378Ter) rs2143254539
NM_000346.4(SOX9):c.1379_1380dup (p.Gly461fs) rs2143257416
NM_000346.4(SOX9):c.68del (p.Ser23fs) rs2143236734
NM_000451.4(SHOX):c.348del (p.Lys116fs) rs2124165604
NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser) rs104894948
NM_001189.4(NKX3-2):c.94_100dup (p.Pro34fs) rs2109005842
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys) rs80356506
NM_001457.4(FLNB):c.541+1G>A rs2106947027
NM_001844.5(COL2A1):c.1267-2A>G rs2136576254
NM_001844.5(COL2A1):c.1420G>A (p.Gly474Ser) rs2136571594
NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp) rs1555167139
NM_001844.5(COL2A1):c.1673G>A (p.Gly558Glu) rs2136567637
NM_001844.5(COL2A1):c.2050G>A (p.Gly684Ser) rs1231988113
NM_001844.5(COL2A1):c.2321G>A (p.Gly774Asp) rs2136546742
NM_001844.5(COL2A1):c.2546G>C (p.Gly849Ala) rs1939004215
NM_001844.5(COL2A1):c.2680-1G>A rs2136532474
NM_001844.5(COL2A1):c.2950G>C (p.Gly984Arg) rs2136526413
NM_001844.5(COL2A1):c.3022G>T (p.Gly1008Cys) rs2136525233
NM_001844.5(COL2A1):c.3050G>A (p.Gly1017Asp) rs2136525107
NM_001844.5(COL2A1):c.4317+1G>A rs2136504667
NM_001844.5(COL2A1):c.4387_4389del (p.Ile1463del) rs527236145
NM_001844.5(COL2A1):c.604_609+2del rs2136621947
NM_001851.6(COL9A1):c.9dup (p.Cys4fs) rs1404756199
NM_001853.4(COL9A3):c.528dup (p.Ile177fs) rs2147205530
NM_001853.4(COL9A3):c.638del (p.Pro213fs) rs2147208638
NM_001854.4(COL11A1):c.4140+3A>T rs1553196515
NM_004239.4(TRIP11):c.1081C>T (p.Gln361Ter) rs2057009434
NM_004239.4(TRIP11):c.2949_2952del (p.Gln984fs) rs1447415684
NM_006579.3(EBP):c.238G>A (p.Glu80Lys) rs104894800
NM_021625.5(TRPV4):c.2146G>A (p.Ala716Thr) rs121912635
NM_024753.5(TTC21B):c.901C>T (p.Arg301Cys) rs1437304335

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