ClinVar Miner

List of variants in gene NPHS1 reported by Blueprint Genetics

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Total variants: 11
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NM_004646.3(NPHS1):c.121_122del (p.Leu41fs) rs386833873
NM_004646.3(NPHS1):c.1297C>T (p.Leu433Phe) rs730880173
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.1610C>T (p.Thr537Met) rs368913905
NM_004646.3(NPHS1):c.1756A>G (p.Arg586Gly) rs730880174
NM_004646.3(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004646.3(NPHS1):c.2873G>A (p.Gly958Glu) rs730880175
NM_004646.3(NPHS1):c.3173C>T (p.Ser1058Leu) rs201503587
NM_004646.3(NPHS1):c.3388-1G>A rs730880176
NM_004646.3(NPHS1):c.528T>C (p.Ser176=) rs539716201

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