ClinVar Miner

List of variants in gene NPHS1 reported as pathogenic by OMIM

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Total variants: 10
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HGVS dbSNP
NM_004646.3(NPHS1):c.121_122delCT (p.Leu41Aspfs) rs386833873
NM_004646.3(NPHS1):c.1307_1308dupAC (p.Val437Thrfs) rs386833878
NM_004646.3(NPHS1):c.1481delC (p.Ser494Cysfs) rs386833883
NM_004646.3(NPHS1):c.2464G>A (p.Val822Met) rs267606918
NM_004646.3(NPHS1):c.3250delG (p.Val1084Serfs) rs386833935
NM_004646.3(NPHS1):c.3325C>T (p.Arg1109Ter) rs137853042
NM_004646.3(NPHS1):c.3478C>T (p.Arg1160Ter) rs267606919
NM_004646.3(NPHS1):c.793T>C (p.Cys265Arg) rs267606917
NM_004646.3(NPHS1):c.[1339G>A;2456A>T]
NPHS1, 1-BP INS, 3250G

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