ClinVar Miner

List of variants in gene NPHS1 reported by Athena Diagnostics Inc

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Total variants: 27
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HGVS dbSNP
NM_004646.3(NPHS1):c.1170+8G>A rs140808195
NM_004646.3(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609
NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747
NM_004646.3(NPHS1):c.1320C>T (p.Pro440=) rs392702
NM_004646.3(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144
NM_004646.3(NPHS1):c.1638T>G (p.Thr546=) rs115444936
NM_004646.3(NPHS1):c.1850A>G (p.His617Arg)
NM_004646.3(NPHS1):c.1930+10C>T rs76131336
NM_004646.3(NPHS1):c.2054G>A (p.Gly685Asp) rs1161340572
NM_004646.3(NPHS1):c.212T>C (p.Leu71Pro) rs1568457698
NM_004646.3(NPHS1):c.2223C>T (p.Thr741=) rs2073901
NM_004646.3(NPHS1):c.2289C>T (p.Val763=) rs437168
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2446T>C (p.Cys816Arg) rs1568453333
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004646.3(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213
NM_004646.3(NPHS1):c.3315G>A (p.Ser1105=) rs2071327
NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) rs3814995
NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257
NM_004646.3(NPHS1):c.3595-9G>T rs77309273
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004646.3(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.3(NPHS1):c.614_621delinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.3(NPHS1):c.644T>A (p.Leu215Gln) rs755962215
NM_004646.3(NPHS1):c.697A>G (p.Thr233Ala) rs35238405
NM_004646.3(NPHS1):c.791C>G (p.Pro264Arg) rs34982899

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