ClinVar Miner

List of variants in gene NPHS1 reported as uncertain significance by Invitae

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.427G>C (p.Glu143Gln) rs540253444 0.00016
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
NM_004646.4(NPHS1):c.710T>A (p.Leu237Gln) rs373835033 0.00011
NM_004646.4(NPHS1):c.2916G>T (p.Arg972Ser) rs374762054 0.00006
NM_004646.4(NPHS1):c.973G>T (p.Ala325Ser) rs376401690 0.00005
NM_004646.4(NPHS1):c.1309G>A (p.Val437Ile) rs751182197 0.00004
NM_004646.4(NPHS1):c.2533C>A (p.Pro845Thr) rs375108899 0.00004
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) rs752712664 0.00004
NM_004646.4(NPHS1):c.2996C>T (p.Thr999Met) rs767424724 0.00004
NM_004646.4(NPHS1):c.3165A>T (p.Ser1055=) rs201738778 0.00004
NM_004646.4(NPHS1):c.2305C>T (p.Leu769Phe) rs747892169 0.00002
NM_004646.4(NPHS1):c.1555C>T (p.Pro519Ser) rs386833884 0.00001
NM_004646.4(NPHS1):c.1727T>C (p.Val576Ala) rs757670920 0.00001
NM_004646.4(NPHS1):c.2669C>T (p.Thr890Met) rs773622352 0.00001
NM_004646.4(NPHS1):c.2695G>A (p.Val899Ile) rs1174084046 0.00001
NM_004646.4(NPHS1):c.3160C>T (p.Pro1054Ser) rs772424085 0.00001
NM_004646.4(NPHS1):c.610G>A (p.Val204Met) rs773027675 0.00001
NM_004646.4(NPHS1):c.625T>A (p.Ser209Thr) rs749219077 0.00001
NM_004646.4(NPHS1):c.938C>T (p.Ala313Val) rs755752316 0.00001
NC_000019.9:g.(?_36317416)_(36317567_?)dup
NM_004646.4(NPHS1):c.1189A>C (p.Ile397Leu) rs1973175925
NM_004646.4(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.4(NPHS1):c.1370C>T (p.Ala457Val)
NM_004646.4(NPHS1):c.1469_1486dup (p.Leu490_Arg495dup) rs1973137901
NM_004646.4(NPHS1):c.1504G>A (p.Val502Met)
NM_004646.4(NPHS1):c.1576T>C (p.Phe526Leu)
NM_004646.4(NPHS1):c.1606T>C (p.Ser536Pro) rs1555762694
NM_004646.4(NPHS1):c.2024C>T (p.Ala675Val)
NM_004646.4(NPHS1):c.2053G>T (p.Gly685Cys)
NM_004646.4(NPHS1):c.2201T>G (p.Leu734Arg) rs781209508
NM_004646.4(NPHS1):c.2210A>C (p.His737Pro)
NM_004646.4(NPHS1):c.2257G>A (p.Val753Ile) rs753894951
NM_004646.4(NPHS1):c.2335-11T>A rs142316130
NM_004646.4(NPHS1):c.2336G>T (p.Gly779Val) rs2146819926
NM_004646.4(NPHS1):c.2452G>A (p.Val818Met)
NM_004646.4(NPHS1):c.2497G>T (p.Val833Phe)
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.2525A>C (p.His842Pro) rs1599841693
NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)
NM_004646.4(NPHS1):c.2635G>A (p.Gly879Arg)
NM_004646.4(NPHS1):c.2651T>C (p.Leu884Pro)
NM_004646.4(NPHS1):c.2679A>G (p.Thr893=) rs1568453068
NM_004646.4(NPHS1):c.2746G>A (p.Ala916Thr)
NM_004646.4(NPHS1):c.2810G>A (p.Ser937Asn)
NM_004646.4(NPHS1):c.2819G>A (p.Arg940His)
NM_004646.4(NPHS1):c.2899G>T (p.Gly967Trp) rs1973023933
NM_004646.4(NPHS1):c.295G>A (p.Glu99Lys)
NM_004646.4(NPHS1):c.3025T>C (p.Tyr1009His)
NM_004646.4(NPHS1):c.3214C>A (p.Leu1072Ile) rs1972887955
NM_004646.4(NPHS1):c.3238T>G (p.Cys1080Gly)
NM_004646.4(NPHS1):c.3244G>A (p.Gly1082Arg)
NM_004646.4(NPHS1):c.3245G>T (p.Gly1082Val) rs1440052631
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3439C>A (p.Pro1147Thr)
NM_004646.4(NPHS1):c.3464A>G (p.Glu1155Gly)
NM_004646.4(NPHS1):c.3544A>G (p.Thr1182Ala) rs537783084
NM_004646.4(NPHS1):c.3544_3545dup (p.Tyr1183fs)
NM_004646.4(NPHS1):c.3643G>A (p.Gly1215Arg) rs901965982
NM_004646.4(NPHS1):c.3679C>G (p.Leu1227Val)
NM_004646.4(NPHS1):c.404C>A (p.Pro135His) rs2146831313
NM_004646.4(NPHS1):c.422C>A (p.Thr141Asn)
NM_004646.4(NPHS1):c.451G>A (p.Val151Ile)
NM_004646.4(NPHS1):c.528T>G (p.Ser176Arg)
NM_004646.4(NPHS1):c.545A>C (p.Asp182Ala) rs2146830080
NM_004646.4(NPHS1):c.620G>A (p.Arg207Gln)
NM_004646.4(NPHS1):c.644T>A (p.Leu215Gln) rs755962215
NM_004646.4(NPHS1):c.665C>T (p.Pro222Leu)
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004646.4(NPHS1):c.767G>A (p.Arg256Gln)
NM_004646.4(NPHS1):c.808G>C (p.Gly270Arg)

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