ClinVar Miner

List of variants studied for Weill-Marchesani syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_139057.4(ADAMTS17):c.168C>T (p.Ala56=) rs886050982 0.00563
NM_000428.3(LTBP2):c.1399+10G>T rs143528294 0.00488
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000428.3(LTBP2):c.4516G>A (p.Val1506Met) rs117800773 0.00149
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_030957.4(ADAMTS10):c.350C>T (p.Ala117Val) rs141952128 0.00096
NM_000428.3(LTBP2):c.4072G>T (p.Ala1358Ser) rs139138043 0.00089
NM_000428.3(LTBP2):c.3611C>T (p.Ala1204Val) rs45468895 0.00057
NM_139057.4(ADAMTS17):c.1288T>C (p.Ser430Pro) rs140930935 0.00056
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 0.00032
NM_030957.4(ADAMTS10):c.1920G>A (p.Ser640=) rs142602984 0.00026
NM_139057.4(ADAMTS17):c.1868T>C (p.Leu623Pro) rs200371613 0.00019
NM_139057.4(ADAMTS17):c.3275C>T (p.Pro1092Leu) rs201896149 0.00019
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000428.3(LTBP2):c.220G>C (p.Glu74Gln) rs79886273 0.00013
NM_000428.3(LTBP2):c.2012A>T (p.Gln671Leu) rs201372116 0.00008
NM_139057.4(ADAMTS17):c.70C>T (p.Pro24Ser) rs150132039 0.00006
NM_000428.3(LTBP2):c.4934G>A (p.Arg1645Gln) rs371346534 0.00004
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln) rs1052480459 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000428.3(LTBP2):c.3423C>A (p.Asp1141Glu) rs745791013 0.00001
NM_000138.5(FBN1):c.164+3A>G
NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)
NM_000138.5(FBN1):c.2200T>C (p.Cys734Arg) rs2141306513
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2419G>A (p.Asp807Asn) rs1566911886
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.3337+1dup rs1566909762
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3578T>C (p.Leu1193Pro) rs2141293110
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.4462G>T (p.Val1488Leu) rs1566904712
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.6037+9G>A
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.6183T>A (p.Cys2061Ter) rs71467648
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6403G>C (p.Asp2135His) rs746167150
NM_000138.5(FBN1):c.6569G>A (p.Cys2190Tyr)
NM_000138.5(FBN1):c.6957T>C (p.Asn2319=) rs1290478839
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000428.3(LTBP2):c.1609C>A (p.Pro537Thr) rs770862437
NM_000428.3(LTBP2):c.1978C>G (p.Arg660Gly) rs199581688
NM_000428.3(LTBP2):c.2441C>G (p.Thr814Ser) rs1555349144
NM_000428.3(LTBP2):c.3940G>A (p.Gly1314Ser)
NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) rs554570575
NM_030957.4(ADAMTS10):c.1084+6C>T
NM_030957.4(ADAMTS10):c.1659G>C (p.Trp553Cys)
NM_030957.4(ADAMTS10):c.2361C>G (p.Ser787Arg)
NM_030957.4(ADAMTS10):c.641C>G (p.Pro214Arg) rs1555741490
NM_139057.4(ADAMTS17):c.1924_1929dup (p.Lys642_Glu643dup) rs533437573
NM_139057.4(ADAMTS17):c.1948G>C (p.Asp650His) rs145922030
NM_139057.4(ADAMTS17):c.2348C>T (p.Pro783Leu) rs144007074
NM_139057.4(ADAMTS17):c.2592-9G>A rs373353462

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