ClinVar Miner

List of variants in gene RPGRIP1L reported as likely pathogenic for cerebellar degeneration

Included ClinVar conditions (270):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015272.5(RPGRIP1L):c.2874+1G>C rs753075262 0.00003
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter) rs267604575 0.00002
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093 0.00002
NM_015272.5(RPGRIP1L):c.3220+1G>A rs969617857 0.00002
NM_015272.5(RPGRIP1L):c.1351-11A>G rs750076702 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449 0.00001
NM_015272.5(RPGRIP1L):c.1645G>T (p.Glu549Ter) rs1676833644 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.2468_2477del (p.Ala823fs) rs771129715 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.3221-2A>G rs200448428 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
NM_015272.5(RPGRIP1L):c.1030-1G>T rs2151236867
NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter) rs2151198563
NM_015272.5(RPGRIP1L):c.1229T>G (p.Leu410Ter)
NM_015272.5(RPGRIP1L):c.1257del (p.Lys419fs)
NM_015272.5(RPGRIP1L):c.1264C>T (p.Gln422Ter)
NM_015272.5(RPGRIP1L):c.1286_1289dup (p.Gln430fs)
NM_015272.5(RPGRIP1L):c.1290_1291del (p.Tyr431fs) rs1381634873
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1405C>T (p.Gln469Ter)
NM_015272.5(RPGRIP1L):c.1451_1454del (p.Asp484fs)
NM_015272.5(RPGRIP1L):c.1464del (p.Asn488fs)
NM_015272.5(RPGRIP1L):c.1538delinsAGA (p.Arg513fs)
NM_015272.5(RPGRIP1L):c.1608_1614del (p.Met537fs) rs2151150644
NM_015272.5(RPGRIP1L):c.1641dup (p.Val548fs)
NM_015272.5(RPGRIP1L):c.170T>A (p.Leu57Ter) rs2151379380
NM_015272.5(RPGRIP1L):c.1770dup (p.Val591fs)
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.188T>G (p.Leu63Ter)
NM_015272.5(RPGRIP1L):c.1959del (p.Glu654fs) rs2151126163
NM_015272.5(RPGRIP1L):c.1978C>T (p.Gln660Ter) rs2151125946
NM_015272.5(RPGRIP1L):c.2057dup (p.Tyr686Ter)
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2149_2152del (p.Ile717fs) rs763685772
NM_015272.5(RPGRIP1L):c.2152+1G>A
NM_015272.5(RPGRIP1L):c.2179G>A (p.Gly727Ser)
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter) rs542206983
NM_015272.5(RPGRIP1L):c.2305-2A>G
NM_015272.5(RPGRIP1L):c.2428C>T (p.Gln810Ter)
NM_015272.5(RPGRIP1L):c.2432del (p.Pro811fs) rs1966511029
NM_015272.5(RPGRIP1L):c.2450A>G (p.Tyr817Cys)
NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2493del (p.Ser832fs) rs746792129
NM_015272.5(RPGRIP1L):c.2550_2554del (p.Met850fs)
NM_015272.5(RPGRIP1L):c.2591_2592del (p.Tyr864fs) rs772028612
NM_015272.5(RPGRIP1L):c.2683+2T>C
NM_015272.5(RPGRIP1L):c.2684-1G>A rs2151060257
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2896C>T (p.Gln966Ter)
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.3217G>T (p.Glu1073Ter)
NM_015272.5(RPGRIP1L):c.3295-2A>G rs1258182460
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3312del (p.Leu1106fs)
NM_015272.5(RPGRIP1L):c.3394del (p.Gln1132fs)
NM_015272.5(RPGRIP1L):c.3430C>T (p.Gln1144Ter)
NM_015272.5(RPGRIP1L):c.3432+1G>A
NM_015272.5(RPGRIP1L):c.3519_3522del (p.Phe1173fs)
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.3607del (p.Tyr1203fs) rs2150964205
NM_015272.5(RPGRIP1L):c.3616+2del rs1964549329
NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter)
NM_015272.5(RPGRIP1L):c.3701+1G>A
NM_015272.5(RPGRIP1L):c.529+1688_609del
NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter)
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.632+1G>A rs1376397728
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
NM_015272.5(RPGRIP1L):c.674T>G (p.Leu225Ter)
NM_015272.5(RPGRIP1L):c.772C>T (p.Gln258Ter) rs1970017927
NM_015272.5(RPGRIP1L):c.776+1G>C
NM_015272.5(RPGRIP1L):c.855_856delinsT (p.Met285fs)
NM_015272.5(RPGRIP1L):c.882+1G>T
NM_015272.5(RPGRIP1L):c.882G>T (p.Glu294Asp)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs) rs1470967742

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