ClinVar Miner

List of variants in gene IMPDH1 reported as uncertain significance for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_000883.4(IMPDH1):c.*105T>A rs886061983
NM_000883.4(IMPDH1):c.*202C>T rs886061982
NM_000883.4(IMPDH1):c.*223C>G rs543042380
NM_000883.4(IMPDH1):c.*231C>G rs1042267
NM_000883.4(IMPDH1):c.*256T>C rs752294619
NM_000883.4(IMPDH1):c.*258C>T rs886061981
NM_000883.4(IMPDH1):c.*259G>A rs535964010
NM_000883.4(IMPDH1):c.*321G>A rs571536404
NM_000883.4(IMPDH1):c.*321G>T rs571536404
NM_000883.4(IMPDH1):c.*631C>T rs760544024
NM_000883.4(IMPDH1):c.-59G>A rs886061985
NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=) rs780213373
NM_000883.4(IMPDH1):c.146+9C>T rs749118285
NM_000883.4(IMPDH1):c.1653C>T (p.His551=) rs147882304
NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile) rs886061984
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249
NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln) rs201071873
NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala) rs144659635
NM_000883.4(IMPDH1):c.888C>T (p.Ile296=) rs72624957
NM_000883.4(IMPDH1):c.978G>C (p.Gln326His)

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