ClinVar Miner

List of variants in gene RPGRIP1L reported as benign for autosomal recessive congenital cerebellar ataxia

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004

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