ClinVar Miner

List of variants in gene NPHS1 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909 0.00006
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter) rs756436580 0.00004
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874 0.00002
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889 0.00001
NM_004646.4(NPHS1):c.2663+2T>G rs762392183 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs) rs1599845714 0.00001
NM_004646.4(NPHS1):c.1020del (p.Ser341fs) rs1555763372
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter) rs753535989
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter) rs1057516776
NM_004646.4(NPHS1):c.1745del (p.Lys582fs) rs1057517021
NM_004646.4(NPHS1):c.2927+2T>A rs1973023048
NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs) rs2146816256
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter) rs767887213
NM_004646.4(NPHS1):c.621del (p.Ser208fs) rs2146828521
NM_004646.4(NPHS1):c.671dup (p.Glu225fs) rs753394912

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