ClinVar Miner

List of variants in gene ASS1 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_054012.4(ASS1):c.838+38A>G rs1215940 0.89625
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_054012.4(ASS1):c.839-88A>T rs543048 0.60888
NM_054012.4(ASS1):c.566+88C>T rs493389 0.59097
NM_054012.4(ASS1):c.597+178G>A rs486889 0.57370
NM_054012.4(ASS1):c.105+115G>A rs1615006 0.56622
NM_054012.4(ASS1):c.-6+67A>C rs6597680 0.52495
NM_054012.4(ASS1):c.838+144C>T rs2043190 0.41770
NM_054012.4(ASS1):c.175-999T>C rs1215987 0.33615
NM_054012.4(ASS1):c.838+66C>A rs2043189 0.32666
NM_054012.4(ASS1):c.175-1233G>A rs1215988 0.32238
NM_054012.4(ASS1):c.363+195C>T rs1215986 0.32152
NM_054012.4(ASS1):c.970+243C>T rs12375699 0.31346
NM_054012.4(ASS1):c.773+184G>T rs540140 0.22343
NM_000050.4(ASS1):c.-323G>T rs2071367 0.18565
NM_054012.4(ASS1):c.1194-210A>G rs2282219 0.13704
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_054012.4(ASS1):c.839-302G>A rs7036163 0.10022
NM_054012.4(ASS1):c.688+206G>A rs58283294 0.09996
NM_054012.4(ASS1):c.174+21A>G rs73541961 0.05590
NM_054012.4(ASS1):c.839-77T>G rs45599031 0.04953
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_054012.4(ASS1):c.496-36C>T rs12343715 0.04390
NM_054012.4(ASS1):c.105+74G>C rs10122141 0.03289
NM_054012.4(ASS1):c.175-1129A>G rs59227343 0.02410
NM_054012.4(ASS1):c.106-284G>A rs75314403 0.02083
NM_054012.4(ASS1):c.106-146C>A rs80350028 0.02081
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_054012.4(ASS1):c.-5-1883C>T rs12004384 0.01076
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_054012.4(ASS1):c.421-19C>T rs138744326 0.00736
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_054012.4(ASS1):c.839-88del rs202135322 0.00202
NM_054012.4(ASS1):c.363+16A>G rs191432165 0.00099
NC_000009.12:g.130501279GT[16] rs55743080
NC_000009.12:g.130501279GT[18] rs55743080
NC_000009.12:g.130501279GT[19] rs55743080
NC_000009.12:g.130501279GT[20] rs55743080
NC_000009.12:g.130501279GT[21] rs55743080
NC_000009.12:g.130501279GT[22] rs55743080
NM_054012.4(ASS1):c.-5-172T>C rs1760275
NM_054012.4(ASS1):c.175-226del rs5900899
NM_054012.4(ASS1):c.495+84A>C rs11243414
NM_054012.4(ASS1):c.496-50C>G rs150202505
NM_054012.4(ASS1):c.838+129C>G rs1215970
NM_054012.4(ASS1):c.970+265G>T rs56186944

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