ClinVar Miner

List of variants in gene RPGRIP1L studied for not specified

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
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.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr) rs148773489 0.00266
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_015272.5(RPGRIP1L):c.2959-31A>G rs190689604 0.00147
NM_015272.5(RPGRIP1L):c.3432+37C>T rs147708513 0.00122
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_015272.5(RPGRIP1L):c.3701+19A>C rs199926524 0.00099
NM_015272.5(RPGRIP1L):c.1401+29C>T rs201026484 0.00093
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=) rs11860753 0.00030
NM_015272.5(RPGRIP1L):c.3702-16A>G rs372739127 0.00030
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys) rs375776718 0.00021
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala) rs201248643 0.00021
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015272.5(RPGRIP1L):c.612C>T (p.Ala204=) rs373750629 0.00016
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_015272.5(RPGRIP1L):c.2874+8T>C rs371853408 0.00013
NM_015272.5(RPGRIP1L):c.-28A>T rs933419557 0.00006
NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) rs143189638 0.00005
NM_015272.5(RPGRIP1L):c.3701+14G>A rs370009233 0.00005
NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) rs371763050 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015272.5(RPGRIP1L):c.2397C>T (p.Cys799=) rs758547965 0.00003
NM_015272.5(RPGRIP1L):c.2875-19A>G rs370091137 0.00003
NM_015272.5(RPGRIP1L):c.3450G>T (p.Arg1150=) rs762140481 0.00003
NM_015272.5(RPGRIP1L):c.2038C>T (p.Leu680Phe) rs758370789 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944 0.00001
NM_015272.5(RPGRIP1L):c.240C>G (p.Thr80=) rs368894452 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015272.5(RPGRIP1L):c.3858T>C (p.Gly1286=) rs201132156 0.00001
NM_015272.5(RPGRIP1L):c.639C>T (p.Asn213=) rs376808910 0.00001
GRCh37/hg19 16q12.2(chr16:53639297-53700937)
NM_015272.5(RPGRIP1L):c.2483C>A (p.Ala828Asp) rs755123128
NM_015272.5(RPGRIP1L):c.2874+31A>T rs376424742
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015272.5(RPGRIP1L):c.3373G>T (p.Asp1125Tyr) rs866468122
NM_015272.5(RPGRIP1L):c.3445A>G (p.Ile1149Val) rs2150964841
NM_015272.5(RPGRIP1L):c.3781G>A (p.Asp1261Asn) rs1445612197
NM_015272.5(RPGRIP1L):c.3836-13C>G rs886038620
NM_015272.5(RPGRIP1L):c.3897C>G (p.Leu1299=) rs915393428
NM_015272.5(RPGRIP1L):c.632+16del rs559978421
NM_015272.5(RPGRIP1L):c.883-32_883-30del rs201808974

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