ClinVar Miner

List of variants in gene IMPDH1 reported as likely benign for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000883.4(IMPDH1):c.*228G>A rs72624976
NM_000883.4(IMPDH1):c.*597G>A rs1803821
NM_000883.4(IMPDH1):c.*634C>T rs1803822
NM_000883.4(IMPDH1):c.-69T>G rs72624936
NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=) rs199623010
NM_000883.4(IMPDH1):c.1405+9A>G rs11562030
NM_000883.4(IMPDH1):c.1575G>A (p.Ala525=) rs2228075
NM_000883.4(IMPDH1):c.987G>C (p.Leu329=) rs2288550

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