ClinVar Miner

List of variants in gene AGK reported as likely pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NC_000007.13:g.(?_141292926)_(141293005_?)dup
NM_018238.4(AGK):c.1047-2A>T rs886041491
NM_018238.4(AGK):c.1131+2T>C rs1797560612
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
NM_018238.4(AGK):c.1211_1237del (p.Leu404_Lys412del) rs1554405947
NM_018238.4(AGK):c.1215dup (p.Phe406fs) rs1587181981
NM_018238.4(AGK):c.390+1G>A rs777096695
NM_018238.4(AGK):c.390G>A (p.Glu130=) rs771375243
NM_018238.4(AGK):c.519-1G>A
NM_018238.4(AGK):c.519-2A>G
NM_018238.4(AGK):c.523_524del (p.Ile175fs) rs1228071168
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) rs1587053244
NM_018238.4(AGK):c.877+2T>G rs1587162871

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