ClinVar Miner

List of variants in gene NPHS1 studied for not specified

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Total variants: 32
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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.128T>C (p.Val43Ala) rs140626538
NM_004646.3(NPHS1):c.1320C>T (p.Pro440=) rs392702
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.1619C>A (p.Ala540Glu) rs149598144
NM_004646.3(NPHS1):c.1930+10C>T rs76131336
NM_004646.3(NPHS1):c.1930+12G>A rs528950
NM_004646.3(NPHS1):c.216C>A (p.Gly72=) rs764300734
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.2622T>C (p.Thr874=) rs886038551
NM_004646.3(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.294C>T (p.Ile98=) rs2285450
NM_004646.3(NPHS1):c.2971G>C (p.Val991Leu) rs34736717
NM_004646.3(NPHS1):c.3110-8C>T rs149878139
NM_004646.3(NPHS1):c.3165A>T (p.Ser1055=) rs201738778
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.3418C>A (p.Arg1140Ser) rs143092783
NM_004646.3(NPHS1):c.3482-7A>T rs73928326
NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) rs3814995
NM_004646.3(NPHS1):c.3595-9G>T rs77309273
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004646.3(NPHS1):c.597G>A (p.Glu199=) rs61731102
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
NM_004646.3(NPHS1):c.840+5dup rs757668116
NM_004646.3(NPHS1):c.881C>T (p.Thr294Ile) rs113825926

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