ClinVar Miner

List of variants reported as likely benign for Congenital Stationary Night Blindness, Recessive

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_198506.5(LRIT3):c.168C>T (p.Pro56=) rs17040904 0.03935
NM_198506.5(LRIT3):c.*854C>T rs6830168 0.03922
NM_198506.5(LRIT3):c.*498G>C rs74634233 0.03328
NM_198506.5(LRIT3):c.505C>A (p.Pro169Thr) rs61745483 0.02563
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe) rs75301950 0.01000
NM_198506.5(LRIT3):c.*1391del rs200634605 0.00815
NM_198506.5(LRIT3):c.*103A>G rs76050257 0.00663
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=) rs76587489 0.00652
NM_198506.5(LRIT3):c.*550G>A rs76150278 0.00649
NM_198506.5(LRIT3):c.-14C>G rs77613966 0.00622
NM_145200.5(CABP4):c.*1813dup rs200446327
NM_145200.5(CABP4):c.*1859CA[14] rs35146220
NM_145200.5(CABP4):c.*1859CA[15] rs35146220
NM_198506.5(LRIT3):c.1184CTT[1] (p.Ser396del) rs794727660
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly) rs79039619

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