ClinVar Miner

List of variants in gene NPHS2 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val) rs61747727 0.02224
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_014625.4(NPHS2):c.643C>T (p.Gln215Ter) rs778055996 0.00003
NM_014625.4(NPHS2):c.714G>T (p.Arg238Ser) rs748812981 0.00003
NM_014625.4(NPHS2):c.506T>C (p.Leu169Pro) rs762336297 0.00002
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr) rs200587413 0.00002
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 0.00001
NM_014625.4(NPHS2):c.535-1G>T rs1291398331 0.00001
NM_014625.4(NPHS2):c.538G>A (p.Val180Met) rs74315347 0.00001
NM_014625.4(NPHS2):c.104dup (p.Arg36fs) rs1320543506
NM_014625.4(NPHS2):c.259G>T (p.Glu87Ter) rs776016821
NM_014625.4(NPHS2):c.29G>C (p.Arg10Thr)
NM_014625.4(NPHS2):c.372C>G (p.Cys124Trp) rs139290621
NM_014625.4(NPHS2):c.419del (p.Gly140fs) rs749779208
NM_014625.4(NPHS2):c.452del rs1250670041
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014625.4(NPHS2):c.561G>A (p.Met187Ile) rs1673966819
NM_014625.4(NPHS2):c.714G>C (p.Arg238Ser) rs748812981

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