ClinVar Miner

List of variants in gene RPGRIP1L reported as likely pathogenic for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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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.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.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.1700-1G>A rs1057520790 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.2304+1G>T rs746451396 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.3617-2A>G rs781683750 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NC_000016.10:g.(?_53656472)_(53687965_?)del
NC_000016.9:g.(?_53672132)_(53679723_?)del
NC_000016.9:g.(?_53672254)_(53676298_?)del
NC_000016.9:g.(?_53720335)_(53721887_?)dup
NC_000016.9:g.(?_53721798)_(53724290_?)del
NC_000016.9:g.(?_53729213)_(53730217_?)dup
NM_015272.5(RPGRIP1L):c.1030-1G>T rs2151236867
NM_015272.5(RPGRIP1L):c.1104-2A>G
NM_015272.5(RPGRIP1L):c.1243+2T>G
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1350+1G>A rs761435025
NM_015272.5(RPGRIP1L):c.1350+1G>T
NM_015272.5(RPGRIP1L):c.1351-2A>C
NM_015272.5(RPGRIP1L):c.1581+1G>A
NM_015272.5(RPGRIP1L):c.1581+2T>C
NM_015272.5(RPGRIP1L):c.1582-1G>C rs750917538
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.1829A>C (p.His610Pro) rs386833997
NM_015272.5(RPGRIP1L):c.1897T>C (p.Cys633Arg)
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2152+1G>C rs1006433886
NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp) rs546150528
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.230+1G>T
NM_015272.5(RPGRIP1L):c.2304+1G>A
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2683+1G>T
NM_015272.5(RPGRIP1L):c.2683+2T>C
NM_015272.5(RPGRIP1L):c.2684-1G>A rs2151060257
NM_015272.5(RPGRIP1L):c.2684-9A>G rs1211499888
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2875-2A>G
NM_015272.5(RPGRIP1L):c.2958+1G>A
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.2959-16_2960del
NM_015272.5(RPGRIP1L):c.3295-2A>G rs1258182460
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3432+1G>A
NM_015272.5(RPGRIP1L):c.3432+1G>T
NM_015272.5(RPGRIP1L):c.3432+2T>C
NM_015272.5(RPGRIP1L):c.3433-1G>A
NM_015272.5(RPGRIP1L):c.3433-7_3436del rs2150964847
NM_015272.5(RPGRIP1L):c.3616+1G>A rs1964549409
NM_015272.5(RPGRIP1L):c.3616+2T>C
NM_015272.5(RPGRIP1L):c.3616+2del rs1964549329
NM_015272.5(RPGRIP1L):c.3811_3812insT (p.Asp1271fs)
NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter) rs1970430433
NM_015272.5(RPGRIP1L):c.441_529+79delinsTGCT
NM_015272.5(RPGRIP1L):c.529+1G>A
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.632+1G>A rs1376397728
NM_015272.5(RPGRIP1L):c.632+1G>T
NM_015272.5(RPGRIP1L):c.632+2T>C rs2151325186
NM_015272.5(RPGRIP1L):c.633-1G>C rs2151318564
NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs) rs386833998
NM_015272.5(RPGRIP1L):c.776+1G>C
NM_015272.5(RPGRIP1L):c.776+2T>C rs2151317483
NM_015272.5(RPGRIP1L):c.85+2del
NM_015272.5(RPGRIP1L):c.883-2A>G rs1598375731
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906

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