ClinVar Miner

Variants in gene RPGRIP1L with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 30
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HGVS dbSNP
NM_015272.5(RPGRIP1L):c.*1033G>A
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071

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