ClinVar Miner

List of variants in gene ADGRG1 reported as likely 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: 11
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HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro) rs587783654 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.768G>C (p.Glu256Asp) rs532188689 0.00001
NM_201525.4(ADGRG1):c.1010dup (p.Gln338fs)
NM_201525.4(ADGRG1):c.1141C>T (p.His381Tyr) rs777643880
NM_201525.4(ADGRG1):c.1850G>C (p.Trp617Ser) rs587783656
NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter) rs587783657
NM_201525.4(ADGRG1):c.215del (p.Pro72fs) rs2044043566
NM_201525.4(ADGRG1):c.429G>A (p.Trp143Ter)

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