ClinVar Miner

List of variants in gene NPHS1 reported by OMIM

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Total variants: 10
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NM_004646.3(NPHS1):c.121_122del (p.Leu41fs) rs386833873
NM_004646.3(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.3(NPHS1):c.1481del (p.Ser494fs) rs386833883
NM_004646.3(NPHS1):c.2464G>A (p.Val822Met) rs267606918
NM_004646.3(NPHS1):c.3250del (p.Val1084fs) 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
NPHS1, 1-BP INS, 3250G

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