ClinVar Miner

List of variants in gene RPGRIP1L reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=) rs144924117 0.00025
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800 0.00010
NM_015272.5(RPGRIP1L):c.1103+7C>T rs761579460 0.00003
NM_015272.5(RPGRIP1L):c.2058T>C (p.Tyr686=) rs778885314 0.00002
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944 0.00001
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=) rs770299101 0.00001
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=) rs754686404 0.00001
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=) rs556719572 0.00001
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=) rs1165700039 0.00001
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009

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