ClinVar Miner

List of variants reported as not provided for familial nephrotic syndrome

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_018685.5(ANLN):c.31C>T (p.Arg11Ter) rs200989750 0.00023
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_182476.3(COQ6):c.436G>T (p.Asp146Tyr) rs140725181 0.00014
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp) rs369573693 0.00003
NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly) rs398122979 0.00002
NM_004998.4(MYO1E):c.1415C>T (p.Ala472Val) rs371914169 0.00001
NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter) rs1057519345 0.00001
NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys) rs374270071 0.00001
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) rs1057519349 0.00001
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln) rs769259446
NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp) rs398122981
NM_024876.4(COQ8B):c.1199dup (p.His400fs) rs398122982
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs) rs398122983
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln) rs1057519347
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter) rs398122980
NM_024876.4(COQ8B):c.645del (p.Phe215fs) rs764587648
NM_024876.4(COQ8B):c.954_956dup (p.Thr319dup) rs1057519346
NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp) rs397514479
NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter) rs1057519351
NM_182476.3(COQ6):c.1383del (p.Ile462fs) rs1057519352
NM_182476.3(COQ6):c.484C>T (p.Arg162Ter) rs189840848
NM_182476.3(COQ6):c.763G>A (p.Gly255Arg) rs1057519350

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