ClinVar Miner

List of variants reported by Institute of Human Genetics, University Medical Center Hamburg-Eppendorf

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.5495G>A (p.Arg1832His) rs764203302 0.00003
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly) rs565227443 0.00001
NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala) rs1559054653
NM_000138.5(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.5(FBN1):c.1589-14A>G rs1566915335
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg) rs1555399165
NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.304T>C (p.Cys102Arg) rs1566937712
NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr) rs1566909766
NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val) rs1566908956
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val) rs1566906537
NM_000138.5(FBN1):c.4781del (p.Gly1594fs) rs1566904011
NM_000138.5(FBN1):c.5066-1G>A rs397515819
NM_000138.5(FBN1):c.5905del (p.Arg1969fs) rs1566898399
NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly) rs1566896114
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6613dup (p.Glu2205fs) rs1566895225
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg) rs1566891701
NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr) rs1566891645
NM_000138.5(FBN1):c.974_983del (p.Gly325fs) rs1566919599
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn) rs1940156255
NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn) rs745788222
NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn) rs2136508302
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.379C>T (p.Pro127Ser) rs1596904322
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) rs886039176
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) rs1564161224
NM_005343.4(HRAS):c.466T>C (p.Phe156Leu) rs2133982557
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs) rs1566999423
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.848T>A (p.Val283Glu) rs1566999601
NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly) rs1566999610
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter) rs797044962
NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter) rs200070245
NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs) rs797044963
NM_032436.4(CHAMP1):c.635del (p.Pro212fs) rs797044961

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