ClinVar Miner

List of variants in gene NPHS2 reported by Athena Diagnostics Inc

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014625.4(NPHS2):c.288C>T (p.Ser96=) rs3738423 0.08705
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.182C>T (p.Ala61Val) rs201050491 0.00575
NM_014625.4(NPHS2):c.87C>G (p.Ala29=) rs12123397 0.00495
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_014625.4(NPHS2):c.447C>T (p.Gly149=) rs139111416 0.00289
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.412C>T (p.Arg138Ter) rs74315343 0.00001
NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg) rs1345260812 0.00001
NM_014625.4(NPHS2):c.503G>A (p.Arg168His) rs530318579 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.264del (p.Glu90fs)
NM_014625.4(NPHS2):c.28dup (p.Arg10fs) rs1553316670
NM_014625.4(NPHS2):c.304G>A (p.Glu102Lys) rs1553315157
NM_014625.4(NPHS2):c.451+9dup rs542240453

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