ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis 6 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092
NM_020366.3(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949
NM_020366.3(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910
NM_020366.3(RPGRIP1):c.2037C>T (p.Thr679=) rs372813238
NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974
NM_020366.3(RPGRIP1):c.2292G>A (p.Ala764=) rs35207255
NM_020366.3(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326
NM_020366.3(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310
NM_020366.3(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019
NM_020366.3(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879
NM_020366.3(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3447C>T (p.Tyr1149=) rs35592908
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020366.3(RPGRIP1):c.3749-6C>A rs373373799
NM_020366.3(RPGRIP1):c.450C>G (p.Leu150=) rs144585562
NM_020366.3(RPGRIP1):c.930+3A>G rs150107283

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