ClinVar Miner

List of variants in gene ADGRG1 reported as pathogenic for not provided

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.1675C>T (p.Arg559Trp) rs121908464 0.00003
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter) rs587783652 0.00002
NM_201525.4(ADGRG1):c.113G>A (p.Arg38Gln) rs764367185 0.00001
NM_201525.4(ADGRG1):c.1486C>T (p.Arg496Ter) rs746634404 0.00001
NM_201525.4(ADGRG1):c.235C>T (p.Arg79Ter) rs780718243 0.00001
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter) rs146278035 0.00001
NM_201525.4(ADGRG1):c.367C>T (p.Gln123Ter) rs1047016803 0.00001
NM_201525.4(ADGRG1):c.391C>T (p.Gln131Ter) rs773498177 0.00001
NC_000016.10:g.57655876del
NC_000016.9:g.(?_57684190)_(57685544_?)del
NC_000016.9:g.(?_57697344)_(57697494_?)del
NM_201525.4(ADGRG1):c.-36+10587_-36+10601del rs587777312
NM_201525.4(ADGRG1):c.1006C>T (p.Gln336Ter) rs2148426389
NM_201525.4(ADGRG1):c.1012C>T (p.Gln338Ter)
NM_201525.4(ADGRG1):c.105C>A (p.Cys35Ter)
NM_201525.4(ADGRG1):c.1098_1099del (p.Cys366_Glu367delinsTer)
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp) rs121908462
NM_201525.4(ADGRG1):c.1131C>A (p.Cys377Ter)
NM_201525.4(ADGRG1):c.1158_1162del (p.Val387fs)
NM_201525.4(ADGRG1):c.1216del (p.Leu406fs) rs797045600
NM_201525.4(ADGRG1):c.1281C>A (p.Cys427Ter)
NM_201525.4(ADGRG1):c.1327_1330del (p.Leu443fs)
NM_201525.4(ADGRG1):c.1327del (p.Leu443fs) rs2148531451
NM_201525.4(ADGRG1):c.1384del (p.Ala461_Leu462insTer) rs1362938038
NM_201525.4(ADGRG1):c.1473del (p.Tyr492fs) rs2046575698
NM_201525.4(ADGRG1):c.1485C>A (p.Tyr495Ter)
NM_201525.4(ADGRG1):c.14C>A (p.Ser5Ter)
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter) rs587783655
NM_201525.4(ADGRG1):c.1517_1518dup (p.Pro507fs)
NM_201525.4(ADGRG1):c.1553G>A (p.Trp518Ter) rs2148540536
NM_201525.4(ADGRG1):c.1656C>A (p.Tyr552Ter) rs2046921766
NM_201525.4(ADGRG1):c.1792C>T (p.Gln598Ter)
NM_201525.4(ADGRG1):c.1805_1806del (p.His602fs)
NM_201525.4(ADGRG1):c.1888C>T (p.Gln630Ter) rs2148609284
NM_201525.4(ADGRG1):c.1900del (p.Leu634fs) rs753241718
NM_201525.4(ADGRG1):c.1933+1G>T
NM_201525.4(ADGRG1):c.1933+2del rs2148610498
NM_201525.4(ADGRG1):c.193del (p.Leu65fs)
NM_201525.4(ADGRG1):c.203_206dup (p.Pro70fs)
NM_201525.4(ADGRG1):c.206_209dup (p.Phe71fs)
NM_201525.4(ADGRG1):c.215del (p.Pro72fs) rs2044043566
NM_201525.4(ADGRG1):c.260del (p.Leu87fs)
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) rs121908465
NM_201525.4(ADGRG1):c.279C>A (p.Tyr93Ter)
NM_201525.4(ADGRG1):c.315T>G (p.Tyr105Ter)
NM_201525.4(ADGRG1):c.37del (p.Leu13fs) rs2148183874
NM_201525.4(ADGRG1):c.401dup (p.Leu135fs)
NM_201525.4(ADGRG1):c.407T>A (p.Leu136Ter) rs763238723
NM_201525.4(ADGRG1):c.428G>A (p.Trp143Ter)
NM_201525.4(ADGRG1):c.429dup (p.Trp144fs) rs2148244740
NM_201525.4(ADGRG1):c.432G>A (p.Trp144Ter)
NM_201525.4(ADGRG1):c.456del (p.Ser153fs)
NM_201525.4(ADGRG1):c.531C>A (p.Cys177Ter) rs774109607
NM_201525.4(ADGRG1):c.532_553del (p.Glu178fs)
NM_201525.4(ADGRG1):c.562C>T (p.Gln188Ter) rs766533641
NM_201525.4(ADGRG1):c.59del (p.Val20fs) rs1597442680
NM_201525.4(ADGRG1):c.606_615dup (p.Ser206fs)
NM_201525.4(ADGRG1):c.637_655del (p.Leu212_Glu213insTer)
NM_201525.4(ADGRG1):c.670dup (p.Asp224fs)
NM_201525.4(ADGRG1):c.671del (p.Asp224fs) rs1057517949
NM_201525.4(ADGRG1):c.739C>T (p.Gln247Ter) rs2148348983
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.772G>T (p.Glu258Ter)
NM_201525.4(ADGRG1):c.811C>T (p.Arg271Ter) rs768441855
NM_201525.4(ADGRG1):c.812del (p.Arg271fs)
NM_201525.4(ADGRG1):c.860_861del (p.Arg287fs) rs778876865
NM_201525.4(ADGRG1):c.864_865insAC (p.Leu289fs)
NM_201525.4(ADGRG1):c.874del (p.Asp292fs)
NM_201525.4(ADGRG1):c.896dup (p.Gln300fs)
NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter) rs1567782714
NM_201525.4(ADGRG1):c.900+1del rs2148412722
NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs) rs797045602
NM_201525.4(ADGRG1):c.96del (p.Arg33fs)

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