ClinVar Miner

List of variants in gene NPHS1 reported as likely pathogenic for not provided

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Total variants: 14
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NM_004646.3(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874
NM_004646.3(NPHS1):c.1592G>T (p.Gly531Val) rs1281962144
NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909
NM_004646.3(NPHS1):c.2404C>T (p.Arg802Trp) rs386833911
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004646.3(NPHS1):c.319G>A (p.Ala107Thr) rs386833933
NM_004646.3(NPHS1):c.3385A>C (p.Thr1129Pro) rs786205518
NM_004646.3(NPHS1):c.3481+4A>T rs1057524695
NM_004646.3(NPHS1):c.559G>A (p.Val187Met) rs199646884
NM_004646.3(NPHS1):c.609-2A>C rs386833955
NM_004646.3(NPHS1):c.728_729del (p.Pro243fs) rs1599845714

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