ClinVar Miner

List of variants studied for Lymphatic malformation 6 by Genome-Nilou Lab

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001142864.4(PIEZO1):c.1196-48A>G rs4782410 0.99677
NM_001142864.4(PIEZO1):c.248T>C (p.Ile83Thr) rs6500495 0.89953
NM_001142864.4(PIEZO1):c.3699+33T>C rs4516218 0.89952
NM_001142864.4(PIEZO1):c.6570A>G (p.Pro2190=) rs6500491 0.89832
NM_001142864.4(PIEZO1):c.4014T>C (p.Phe1338=) rs4782430 0.89391
NM_001142864.4(PIEZO1):c.7059T>C (p.Pro2353=) rs2290902 0.87977
NM_001142864.4(PIEZO1):c.4956-3T>C rs9935872 0.87681
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala) rs7184427 0.85861
NM_001142864.4(PIEZO1):c.161-32G>A rs7201439 0.85011
NM_001142864.4(PIEZO1):c.1180G>C (p.Val394Leu) rs6500493 0.70789
NM_001142864.4(PIEZO1):c.6642G>C (p.Leu2214=) rs8057031 0.63867
NM_001142864.4(PIEZO1):c.1219A>G (p.Arg407Gly) rs13333358 0.38670
NM_001142864.4(PIEZO1):c.63T>G (p.Ala21=) rs2911442 0.30977
NM_001142864.4(PIEZO1):c.2329+19G>A rs2306050 0.28823
NM_001142864.4(PIEZO1):c.6793A>G (p.Ile2265Val) rs1803382 0.25214
NM_001142864.4(PIEZO1):c.4775+31G>T rs3816618 0.22643
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu) rs11645197 0.22515
NM_001142864.4(PIEZO1):c.5569C>T (p.Pro1857Ser) rs35159887 0.22508
NM_001142864.4(PIEZO1):c.465+8C>T rs2242164 0.22253
NM_001142864.4(PIEZO1):c.635-8C>T rs11076706 0.20777
NM_001142864.4(PIEZO1):c.466-39C>T rs7185630 0.20717
NM_001142864.4(PIEZO1):c.3796+22G>A rs2247261 0.20320
NM_001142864.4(PIEZO1):c.1997+32C>T rs3214056 0.19512
NM_001142864.4(PIEZO1):c.2992-23A>G rs76070043 0.14300
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_001142864.4(PIEZO1):c.1195+36dup rs66881450
NM_001142864.4(PIEZO1):c.1557+16C>G rs734918
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001142864.4(PIEZO1):c.3969-5T>C rs4782429
NM_001142864.4(PIEZO1):c.5538C>G (p.Ala1846=) rs8043924
NM_001142864.4(PIEZO1):c.5629AAG[1] (p.Lys1878del) rs3217718
NM_001142864.4(PIEZO1):c.5802-27G>A rs4401037
NM_001142864.4(PIEZO1):c.7316+21del rs3214887
NM_001142864.4(PIEZO1):c.848+17C>T rs8060643

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