ClinVar Miner

List of variants reported as likely benign for Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_212482.4(FN1):c.1101T>C (p.Asn367=) rs114523318 0.01928
NM_212482.4(FN1):c.3189C>T (p.Thr1063=) rs78262627 0.00644
NM_212482.4(FN1):c.1547-6A>G rs3213885 0.00122
NM_212482.4(FN1):c.2130C>T (p.Thr710=) rs140116931 0.00109
NM_212482.4(FN1):c.416-17C>T rs142394008 0.00106
NM_212482.4(FN1):c.547+19T>C rs183120644 0.00099
NM_212482.4(FN1):c.1002G>A (p.Thr334=) rs138271073 0.00091
NM_212482.4(FN1):c.1110G>A (p.Thr370=) rs149123808 0.00084
NM_212482.4(FN1):c.1626C>T (p.Asn542=) rs138144264 0.00080
NM_212482.4(FN1):c.1023C>T (p.Ser341=) rs138120768 0.00069
NM_212482.4(FN1):c.2829C>T (p.Pro943=) rs112901124 0.00053
NM_212482.4(FN1):c.117C>G (p.Pro39=) rs148348956 0.00049
NM_212482.4(FN1):c.5623-13C>G rs192981567 0.00048
NM_212482.4(FN1):c.6336T>C (p.Pro2112=) rs148278567 0.00047
NM_212482.4(FN1):c.5761A>T (p.Ile1921Phe) rs138593265 0.00045
NM_212482.4(FN1):c.5164+14G>T rs186800160 0.00040
NM_212482.4(FN1):c.5532A>C (p.Arg1844=) rs149965879 0.00036
NM_212482.4(FN1):c.1676-9G>A rs372339259 0.00034
NM_212482.4(FN1):c.6923T>C (p.Val2308Ala) rs545761792 0.00034
NM_212482.4(FN1):c.1860G>A (p.Pro620=) rs147845471 0.00032
NM_212482.4(FN1):c.1638C>T (p.Phe546=) rs368833093 0.00026
NM_212482.4(FN1):c.2713+20A>G rs368435928 0.00025
NM_212482.4(FN1):c.1143C>T (p.Asp381=) rs200307732 0.00022
NM_212482.4(FN1):c.2538G>A (p.Ser846=) rs145300210 0.00022
NM_212482.4(FN1):c.3909T>G (p.Val1303=) rs200729428 0.00021
NM_212482.4(FN1):c.278-18C>T rs57534860 0.00019
NM_212482.4(FN1):c.4791C>T (p.Ser1597=) rs374970848 0.00019
NM_212482.4(FN1):c.2413A>G (p.Thr805Ala) rs199957523 0.00018
NM_212482.4(FN1):c.2714-11_2714-10del rs371418810 0.00017
NM_212482.4(FN1):c.5903C>G (p.Thr1968Ser) rs201136367 0.00017
NM_212482.4(FN1):c.1820-16A>G rs72943927 0.00016
NM_212482.4(FN1):c.3012G>A (p.Gln1004=) rs142994783 0.00014
NM_212482.4(FN1):c.1169C>T (p.Ser390Leu) rs201876289 0.00013
NM_212482.4(FN1):c.1217-11G>A rs374987974 0.00013
NM_212482.4(FN1):c.6158-7C>T rs372760499 0.00012
NM_212482.4(FN1):c.5977+7A>G rs373840022 0.00011
NM_212482.4(FN1):c.6459G>A (p.Pro2153=) rs372396685 0.00011
NM_212482.4(FN1):c.6479T>C (p.Ile2160Thr) rs147627800 0.00011
NM_212482.4(FN1):c.1361C>A (p.Ala454Asp) rs147802150 0.00010
NM_212482.4(FN1):c.5051-9C>A rs376036111 0.00010
NM_212482.4(FN1):c.2714-10T>C rs374704249 0.00009
NM_212482.4(FN1):c.3492G>A (p.Ala1164=) rs548899134 0.00009
NM_212482.4(FN1):c.1413A>C (p.Thr471=) rs1009644782 0.00007
NM_212482.4(FN1):c.1871A>G (p.Asn624Ser) rs199764052 0.00007
NM_212482.4(FN1):c.7116C>T (p.Asn2372=) rs568449322 0.00007
NM_212482.4(FN1):c.4012G>A (p.Val1338Ile) rs375642491 0.00006
NM_212482.4(FN1):c.5943T>C (p.Ala1981=) rs200485690 0.00006
NM_212482.4(FN1):c.6157+4T>C rs779209474 0.00006
NM_212482.4(FN1):c.1053C>T (p.Tyr351=) rs202133752 0.00005
NM_212482.4(FN1):c.3187A>G (p.Thr1063Ala) rs752617883 0.00005
NM_212482.4(FN1):c.4626G>A (p.Pro1542=) rs142628915 0.00005
NM_212482.4(FN1):c.6121C>T (p.Arg2041Trp) rs376754454 0.00005
NM_212482.4(FN1):c.247C>A (p.Arg83=) rs780120577 0.00004
NM_212482.4(FN1):c.2717C>T (p.Thr906Ile) rs370342980 0.00004
NM_212482.4(FN1):c.3866C>T (p.Pro1289Leu) rs751026014 0.00004
NM_212482.4(FN1):c.4070-11T>C rs768537622 0.00004
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly) rs370343584 0.00004
NM_212482.4(FN1):c.6584G>A (p.Gly2195Glu) rs1058361 0.00004
NM_212482.4(FN1):c.1757A>G (p.Gln586Arg) rs138219703 0.00003
NM_212482.4(FN1):c.2299+16C>T rs201231230 0.00003
NM_212482.4(FN1):c.3288C>T (p.Thr1096=) rs754499962 0.00003
NM_212482.4(FN1):c.6002G>A (p.Arg2001His) rs749462589 0.00003
NM_212482.4(FN1):c.6066C>T (p.Thr2022=) rs144324514 0.00003
NM_212482.4(FN1):c.7346A>G (p.His2449Arg) rs759470429 0.00003
NM_212482.4(FN1):c.1448A>G (p.Gln483Arg) rs185760115 0.00002
NM_212482.4(FN1):c.4143C>T (p.Pro1381=) rs767010734 0.00002
NM_212482.4(FN1):c.4161C>A (p.Thr1387=) rs370663743 0.00002
NM_212482.4(FN1):c.4719C>T (p.Tyr1573=) rs147150819 0.00002
NM_212482.4(FN1):c.5511T>C (p.Asn1837=) rs760293471 0.00002
NM_212482.4(FN1):c.665G>A (p.Arg222His) rs778971356 0.00002
NM_212482.4(FN1):c.3091G>A (p.Val1031Met) rs954994232 0.00001
NM_212482.4(FN1):c.548-10T>C rs1407477861 0.00001
NM_212482.4(FN1):c.1449G>A (p.Gln483=) rs749775069
NM_212482.4(FN1):c.148+16G>A rs367674539
NM_212482.4(FN1):c.1942-38GT[13] rs5838511
NM_212482.4(FN1):c.1942-38GT[14] rs5838511
NM_212482.4(FN1):c.2518+12G>C rs7570208
NM_212482.4(FN1):c.2967G>C (p.Leu989=) rs372040503
NM_212482.4(FN1):c.5964C>T (p.Ile1988=) rs143393843
NM_212482.4(FN1):c.6507G>A (p.Pro2169=) rs145436721
NM_212482.4(FN1):c.6507G>C (p.Pro2169=)
NM_212482.4(FN1):c.6634A>G (p.Ile2212Val) rs17449032
NM_212482.4(FN1):c.7363-20del rs752005289

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