ClinVar Miner

List of variants in gene CELSR1 studied for lymphatic malformation 9

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001378328.1(CELSR1):c.1592C>G (p.Ser531Trp)
NM_001378328.1(CELSR1):c.1849G>T (p.Ala617Ser)
NM_001378328.1(CELSR1):c.3169C>T (p.Arg1057Cys)
NM_001378328.1(CELSR1):c.3968G>A (p.Arg1323Gln)
NM_001378328.1(CELSR1):c.4270G>A (p.Gly1424Ser)
NM_001378328.1(CELSR1):c.4366C>T (p.Arg1456Trp)
NM_001378328.1(CELSR1):c.4552G>C (p.Val1518Leu)
NM_001378328.1(CELSR1):c.4903G>A (p.Gly1635Arg)
NM_001378328.1(CELSR1):c.4928G>A (p.Arg1643Gln)
NM_001378328.1(CELSR1):c.5121dup (p.Ile1708fs) rs2147324428
NM_001378328.1(CELSR1):c.5226+2T>A rs1569141899
NM_001378328.1(CELSR1):c.5501G>A (p.Arg1834His)
NM_001378328.1(CELSR1):c.5512C>T (p.Arg1838Ter)
NM_001378328.1(CELSR1):c.5871G>A (p.Trp1957Ter) rs2147265140
NM_001378328.1(CELSR1):c.6010G>A (p.Asp2004Asn)
NM_001378328.1(CELSR1):c.6160G>T (p.Gly2054Cys)
NM_001378328.1(CELSR1):c.6371C>T (p.Thr2124Met)
NM_001378328.1(CELSR1):c.6463A>G (p.Thr2155Ala)
NM_001378328.1(CELSR1):c.6514G>A (p.Gly2172Ser)
NM_001378328.1(CELSR1):c.6544G>A (p.Asp2182Asn)
NM_001378328.1(CELSR1):c.692G>T (p.Arg231Leu)
NM_001378328.1(CELSR1):c.7256C>T (p.Ala2419Val)
NM_001378328.1(CELSR1):c.7640C>T (p.Ala2547Val) rs2147187765
NM_001378328.1(CELSR1):c.7715G>A (p.Arg2572Gln)
NM_001378328.1(CELSR1):c.7792G>A (p.Gly2598Arg)
NM_001378328.1(CELSR1):c.7797C>A (p.Asn2599Lys)
NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter) rs1569227576
NM_001378328.1(CELSR1):c.8863G>A (p.Ala2955Thr)

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