ClinVar Miner

List of variants in gene CELSR2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001408.3(CELSR2):c.333C>T (p.Pro111=) rs142746289 0.00921
NM_001408.3(CELSR2):c.3602C>T (p.Pro1201Leu) rs75237799 0.00877
NM_001408.3(CELSR2):c.376C>A (p.Gln126Lys) rs62623708 0.00366
NM_001408.3(CELSR2):c.1892C>T (p.Thr631Met) rs41279706 0.00349
NM_001408.3(CELSR2):c.7649G>A (p.Arg2550Gln) rs628525 0.00287
NM_001408.3(CELSR2):c.8154G>A (p.Thr2718=) rs41279718 0.00218
NM_001408.3(CELSR2):c.5794T>G (p.Leu1932Val) rs138787753 0.00173
NM_001408.3(CELSR2):c.6510C>T (p.Ser2170=) rs142255122 0.00077
NM_001408.3(CELSR2):c.4685T>C (p.Ile1562Thr) rs202022169 0.00071
NM_001408.3(CELSR2):c.8412C>T (p.Asn2804=) rs149569254 0.00067
NM_001408.3(CELSR2):c.732C>T (p.Ala244=) rs147986274 0.00056
NM_001408.3(CELSR2):c.7044C>T (p.His2348=) rs150989889 0.00055
NM_001408.3(CELSR2):c.6769G>A (p.Gly2257Arg) rs143064921 0.00020
NM_001408.3(CELSR2):c.5040A>C (p.Thr1680=) rs377023561 0.00019
NM_001408.3(CELSR2):c.2418C>T (p.Asn806=) rs142987028 0.00007
NM_001408.3(CELSR2):c.5912-4G>A rs200806233 0.00004
NM_001408.3(CELSR2):c.5741G>A (p.Arg1914Gln) rs1329833232 0.00001
NM_001408.3(CELSR2):c.1520G>C (p.Ser507Thr)
NM_001408.3(CELSR2):c.1941C>G (p.Ile647Met) rs1156835368
NM_001408.3(CELSR2):c.2085G>A (p.Thr695=)
NM_001408.3(CELSR2):c.2381A>G (p.Gln794Arg) rs1064797116
NM_001408.3(CELSR2):c.2489C>T (p.Pro830Leu) rs1156938404
NM_001408.3(CELSR2):c.2925C>T (p.Ser975=)
NM_001408.3(CELSR2):c.3522C>T (p.Asp1174=) rs369490352
NM_001408.3(CELSR2):c.4374A>G (p.Lys1458=)
NM_001408.3(CELSR2):c.4728C>T (p.Asn1576=)
NM_001408.3(CELSR2):c.4875G>A (p.Val1625=)
NM_001408.3(CELSR2):c.4884T>C (p.His1628=)
NM_001408.3(CELSR2):c.6642C>T (p.Pro2214=)
NM_001408.3(CELSR2):c.7005G>A (p.Ser2335=)
NM_001408.3(CELSR2):c.7335G>T (p.Leu2445=)
NM_001408.3(CELSR2):c.7390C>T (p.Leu2464=)

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