ClinVar Miner

List of variants in gene ADGRG1 reported as pathogenic for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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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.1468G>A (p.Glu490Lys) rs556518689 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.620+1G>A rs587783660 0.00001
NM_201525.4(ADGRG1):c.-36+10587_-36+10601del rs587777312
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)
NM_201525.4(ADGRG1):c.1036T>A (p.Cys346Ser) rs121908463
NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter) rs786204777
NM_201525.4(ADGRG1):c.112C>T (p.Arg38Trp) rs121908462
NM_201525.4(ADGRG1):c.1167+3G>C rs587776623
NM_201525.4(ADGRG1):c.1216del (p.Leu406fs) rs797045600
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro) rs587783653
NM_201525.4(ADGRG1):c.1457G>A (p.Trp486Ter)
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter) rs587783655
NM_201525.4(ADGRG1):c.1583dup (p.Ala529fs) rs1567815105
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) rs587783657
NM_201525.4(ADGRG1):c.209C>T (p.Pro70Leu)
NM_201525.4(ADGRG1):c.263A>G (p.Tyr88Cys) rs121908466
NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr) rs587783658
NM_201525.4(ADGRG1):c.272G>C (p.Cys91Ser) rs121908465
NM_201525.4(ADGRG1):c.580C>T (p.Gln194Ter) rs2148318641
NM_201525.4(ADGRG1):c.621-1G>C rs587776624
NM_201525.4(ADGRG1):c.671del (p.Asp224fs) rs1057517949
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs) rs587776625
NM_201525.4(ADGRG1):c.811C>T (p.Arg271Ter) rs768441855
NM_201525.4(ADGRG1):c.898C>T (p.Gln300Ter) rs1567782714
NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs) rs797045602

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