ClinVar Miner

List of variants in gene NPHS1 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser) rs748287435 0.00003
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu) rs386833867 0.00001
NM_004646.4(NPHS1):c.3109+2T>G rs765534006 0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn) rs386833932 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.527-1G>A rs771143648 0.00001
NC_000019.9:g.(?_36330129)_(36330519_?)del
NM_004646.4(NPHS1):c.1012+2T>A
NM_004646.4(NPHS1):c.1049C>A (p.Ser350Tyr) rs570069789
NM_004646.4(NPHS1):c.1097G>A (p.Ser366Asn) rs2146827117
NM_004646.4(NPHS1):c.1102C>T (p.Pro368Ser) rs386833866
NM_004646.4(NPHS1):c.1316-1G>C rs1973171785
NM_004646.4(NPHS1):c.1441-1G>T rs2146824388
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
NM_004646.4(NPHS1):c.1867T>C (p.Cys623Arg) rs2146823273
NM_004646.4(NPHS1):c.2071+2del rs2146822162
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2083C>T (p.Arg695Trp) rs2146822039
NM_004646.4(NPHS1):c.2132G>C (p.Arg711Pro) rs926025297
NM_004646.4(NPHS1):c.2387G>A (p.Gly796Glu) rs2146819844
NM_004646.4(NPHS1):c.2416G>A (p.Ala806Thr) rs2146819794
NM_004646.4(NPHS1):c.2506+1G>A rs1973073001
NM_004646.4(NPHS1):c.2507-2A>G rs2146819530
NM_004646.4(NPHS1):c.2663_2663+9del rs771953692
NM_004646.4(NPHS1):c.275-1G>C rs144118716
NM_004646.4(NPHS1):c.2815+1G>C rs2146818902
NM_004646.4(NPHS1):c.2816-2A>G
NM_004646.4(NPHS1):c.286C>G (p.Leu96Val) rs386833929
NM_004646.4(NPHS1):c.287T>A (p.Leu96Gln)
NM_004646.4(NPHS1):c.2927+1G>A rs386833930
NM_004646.4(NPHS1):c.2927+1G>C
NM_004646.4(NPHS1):c.2927+1G>T
NM_004646.4(NPHS1):c.2927+2T>C
NM_004646.4(NPHS1):c.3110-2A>G rs2146812253
NM_004646.4(NPHS1):c.314A>C (p.Asp105Ala)
NM_004646.4(NPHS1):c.3287-2A>G rs758432802
NM_004646.4(NPHS1):c.3312-1G>C
NM_004646.4(NPHS1):c.3387+2T>C rs2146807429
NM_004646.4(NPHS1):c.397+1G>C
NM_004646.4(NPHS1):c.397+2T>A rs1054950770
NM_004646.4(NPHS1):c.398-2A>G rs1555763974
NM_004646.4(NPHS1):c.526+1G>C rs371515262
NM_004646.4(NPHS1):c.608+1G>T rs2146829967
NM_004646.4(NPHS1):c.609-2A>C rs386833955
NM_004646.4(NPHS1):c.712+1G>A
NM_004646.4(NPHS1):c.713-2A>T rs2146828046
NM_004646.4(NPHS1):c.928G>T (p.Asp310Tyr)

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