ClinVar Miner

List of variants in gene NEDD4L reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001144967.3(NEDD4L):c.698C>T (p.Ser233Leu) rs202231187 0.00354
NM_001144967.3(NEDD4L):c.2613C>T (p.Asn871=) rs141136641 0.00163
NM_001144967.3(NEDD4L):c.2542C>T (p.Leu848=) rs370069597 0.00099
NM_001144967.3(NEDD4L):c.1980T>C (p.Tyr660=) rs202013710 0.00075
NM_001144967.3(NEDD4L):c.535T>A (p.Ser179Thr) rs185533207 0.00051
NM_001144967.3(NEDD4L):c.639C>T (p.Asn213=) rs202008394 0.00049
NM_001144967.3(NEDD4L):c.1377+7C>T rs372739641 0.00003
NM_001144967.3(NEDD4L):c.2665C>T (p.Leu889Phe) rs775922627 0.00002
NM_001144967.3(NEDD4L):c.1073C>G (p.Ala358Gly)
NM_001144967.3(NEDD4L):c.1437C>G (p.Ser479=) rs1423153631
NM_001144967.3(NEDD4L):c.2441G>A (p.Trp814Ter) rs2146788855
NM_001144967.3(NEDD4L):c.297+3908G>A
NM_001144967.3(NEDD4L):c.297+3917G>C
NM_001144967.3(NEDD4L):c.297+4116C>T
NM_001144967.3(NEDD4L):c.297+4347C>T
NM_001144967.3(NEDD4L):c.467dup (p.Asn156fs) rs1601236438
NM_001144967.3(NEDD4L):c.48+46726_48+46730del

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