ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_001082538.3(TCTN1):c.341+1G>A rs200241085 0.00006
NM_024809.5(TCTN2):c.267+1G>A rs141752910 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738 0.00005
NM_024809.5(TCTN2):c.1612+1G>A rs371537478 0.00005
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_001082538.3(TCTN1):c.712+1G>A rs200863258 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro) rs763425007 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015272.5(RPGRIP1L):c.2874+1G>C rs753075262 0.00003
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) rs774091057 0.00002
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His) rs886940102 0.00002
NM_015272.5(RPGRIP1L):c.3220+1G>A rs969617857 0.00002
NM_025114.4(CEP290):c.181-1G>A rs281865190 0.00002
NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr) rs377160954 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_001082538.3(TCTN1):c.1104+1G>C rs756402483 0.00001
NM_001082538.3(TCTN1):c.713-2A>G rs2066444872 0.00001
NM_001378615.1(CC2D2A):c.2486+1G>C rs386833747 0.00001
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=) rs765873247 0.00001
NM_001378615.1(CC2D2A):c.438+1G>A rs1453265480 0.00001
NM_015272.5(RPGRIP1L):c.1700-1G>A rs1057520790 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.3221-2A>G rs200448428 0.00001
NM_015272.5(RPGRIP1L):c.3617-2A>G rs781683750 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_017777.4(MKS1):c.1095+1G>A rs747740477 0.00001
NM_017777.4(MKS1):c.1096-1G>C rs1401015954 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.81-1G>A rs12942386 0.00001
NM_025114.4(CEP290):c.1190-2A>G rs200818935 0.00001
NM_025114.4(CEP290):c.1712-2A>T rs764551108 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.3309+2T>C rs1007902545 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His) rs386834183 0.00001
NM_153704.6(TMEM67):c.1646G>A (p.Arg549His) rs768457119 0.00001
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614 0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) rs797046045 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NC_000004.11:g.(?_15478346)_(15482422_?)del
NC_000004.11:g.(?_15482308)_(15482471_?)dup
NC_000012.11:g.(?_111079754)_(111082915_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)dup
NC_000012.11:g.(?_88452605)_(88454791_?)dup
NC_000012.11:g.(?_88465051)_(88508979_?)dup
NC_000012.11:g.(?_88471559)_(88471893_?)del
NC_000012.11:g.(?_88517531)_(88519028_?)del
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
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NM_001077418.3(TMEM231):c.140-30A>C rs2080806593
NM_001077418.3(TMEM231):c.439-33_538del
NM_001082538.3(TCTN1):c.1104+2T>C
NM_001082538.3(TCTN1):c.1332-1G>C
NM_001082538.3(TCTN1):c.1494+1G>A rs1165243207
NM_001082538.3(TCTN1):c.1495-2A>G
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
NM_001082538.3(TCTN1):c.472+1G>C
NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln) rs2066300090
NM_001378615.1(CC2D2A):c.1018-1G>A rs1716886666
NM_001378615.1(CC2D2A):c.123+2T>G
NM_001378615.1(CC2D2A):c.124-1G>C
NM_001378615.1(CC2D2A):c.1359+1G>C
NM_001378615.1(CC2D2A):c.1466+1G>A
NM_001378615.1(CC2D2A):c.1466+2T>C rs770219362
NM_001378615.1(CC2D2A):c.1467-1G>A
NM_001378615.1(CC2D2A):c.1608-2A>G
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg) rs754221308
NM_001378615.1(CC2D2A):c.1765-1G>C
NM_001378615.1(CC2D2A):c.2004-1G>A
NM_001378615.1(CC2D2A):c.2338+2T>C
NM_001378615.1(CC2D2A):c.247+1G>A rs765072583
NM_001378615.1(CC2D2A):c.248-1G>A rs2108998253
NM_001378615.1(CC2D2A):c.2486+1G>A
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)
NM_001378615.1(CC2D2A):c.2830-1G>A
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.3015-1G>C
NM_001378615.1(CC2D2A):c.3182+1G>A
NM_001378615.1(CC2D2A):c.3183-1G>T rs1719930798
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys) rs2109070604
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.337-2A>C
NM_001378615.1(CC2D2A):c.3399-1G>C
NM_001378615.1(CC2D2A):c.3399-3C>A rs386833753
NM_001378615.1(CC2D2A):c.3595-1G>T
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu) rs1720595936
NM_001378615.1(CC2D2A):c.3975+1G>T
NM_001378615.1(CC2D2A):c.3975+2T>G
NM_001378615.1(CC2D2A):c.4065+1G>A
NM_001378615.1(CC2D2A):c.4065+2T>C rs1179041639
NM_001378615.1(CC2D2A):c.4066-1G>A rs867390302
NM_001378615.1(CC2D2A):c.4179+1G>A rs886044295
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001378615.1(CC2D2A):c.4303_4314+1del
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)
NM_001378615.1(CC2D2A):c.540+1G>A rs1296652053
NM_001378615.1(CC2D2A):c.717+1G>A
NM_001378615.1(CC2D2A):c.717+1G>T rs1027674181
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.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.1897T>C (p.Cys633Arg)
NM_015272.5(RPGRIP1L):c.2152+1G>C rs1006433886
NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp) rs546150528
NM_015272.5(RPGRIP1L):c.230+1G>T
NM_015272.5(RPGRIP1L):c.2304+1G>A
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.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.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.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.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.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_015681.6(B9D1):c.342-1G>T
NM_017777.4(MKS1):c.1025-2A>G
NM_017777.4(MKS1):c.1095+2T>C rs2143756871
NM_017777.4(MKS1):c.1166-1G>C rs776174898
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1274-2A>C
NM_017777.4(MKS1):c.1399_1407+4del rs2143742869
NM_017777.4(MKS1):c.1407+1G>A rs1567795088
NM_017777.4(MKS1):c.1408-2_1408-1del
NM_017777.4(MKS1):c.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG
NM_017777.4(MKS1):c.1490+1G>A rs2143737350
NM_017777.4(MKS1):c.1490+1G>T
NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)
NM_017777.4(MKS1):c.1589-2A>G
NM_017777.4(MKS1):c.1589-2A>T rs863225207
NM_017777.4(MKS1):c.190+1G>A
NM_017777.4(MKS1):c.516-2A>G rs2143805609
NM_017777.4(MKS1):c.528_644+12del
NM_017777.4(MKS1):c.81-2A>G
NM_017777.4(MKS1):c.81-2A>T rs756709080
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.859-2A>C
NM_017777.4(MKS1):c.859-2A>T
NM_017777.4(MKS1):c.959-1G>A
NM_017777.4(MKS1):c.959-2A>G rs1273591389
NM_024809.5(TCTN2):c.1033+1G>A
NM_024809.5(TCTN2):c.1312+1G>C
NM_024809.5(TCTN2):c.1751T>C (p.Ile584Thr)
NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)
NM_024809.5(TCTN2):c.1770-2A>G rs1566265412
NM_024809.5(TCTN2):c.268-2A>G
NM_024809.5(TCTN2):c.565-1G>A
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.765-1G>A
NM_024809.5(TCTN2):c.765-1G>C
NM_024809.5(TCTN2):c.82+1G>T
NM_024809.5(TCTN2):c.83-2A>G
NM_024809.5(TCTN2):c.891+1G>A
NM_025114.4(CEP290):c.102+2T>A
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1065+1G>A
NM_025114.4(CEP290):c.1065+1G>C rs2138021203
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-1G>C
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1910-1G>A
NM_025114.4(CEP290):c.2041_2052+23del rs2137779120
NM_025114.4(CEP290):c.2052+1G>A
NM_025114.4(CEP290):c.2052+4A>T
NM_025114.4(CEP290):c.2217+1G>T
NM_025114.4(CEP290):c.2217+2T>C rs2038702746
NM_025114.4(CEP290):c.2367+2T>C rs2137707354
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.250+1G>A
NM_025114.4(CEP290):c.251-1G>C rs2138259162
NM_025114.4(CEP290):c.251-2A>G rs951979448
NM_025114.4(CEP290):c.2586_2586+4del
NM_025114.4(CEP290):c.2817+1G>T
NM_025114.4(CEP290):c.2992-2A>C
NM_025114.4(CEP290):c.3103+1G>A
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3573+1G>A
NM_025114.4(CEP290):c.3574-1G>A
NM_025114.4(CEP290):c.3574-2A>G
NM_025114.4(CEP290):c.4030-2A>G rs2036722229
NM_025114.4(CEP290):c.4194+1G>C
NM_025114.4(CEP290):c.4194+2T>A rs2137247685
NM_025114.4(CEP290):c.441+1G>A
NM_025114.4(CEP290):c.441+1G>C
NM_025114.4(CEP290):c.442-1G>A
NM_025114.4(CEP290):c.4704+1G>A
NM_025114.4(CEP290):c.4812+1G>A rs2137167420
NM_025114.4(CEP290):c.4812+1G>T
NM_025114.4(CEP290):c.5013-1G>A
NM_025114.4(CEP290):c.516+1G>A
NM_025114.4(CEP290):c.5227-2A>G
NM_025114.4(CEP290):c.5586+1G>C rs2035880971
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5587-14_5588del
NM_025114.4(CEP290):c.5856-1_5856delinsTT rs2136958216
NM_025114.4(CEP290):c.5856-2A>C
NM_025114.4(CEP290):c.6011+2T>G
NM_025114.4(CEP290):c.6270+1G>T
NM_025114.4(CEP290):c.6270+2T>C
NM_025114.4(CEP290):c.6271-6_6274del rs2034579427
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6818+2T>C
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6961-1G>T rs2136637204
NM_025114.4(CEP290):c.6961-3_6965del
NM_025114.4(CEP290):c.7130-1G>A
NM_025114.4(CEP290):c.832_852+19del rs2138082472
NM_025114.4(CEP290):c.853-2A>G
NM_025114.4(CEP290):c.853-2A>T
NM_025114.4(CEP290):c.942+1G>A rs2039897317
NM_025114.4(CEP290):c.942+1G>C rs2039897317
NM_025114.4(CEP290):c.943-1G>A rs2138025029
NM_025114.4(CEP290):c.943-1G>C rs2138025029
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys) rs754370463
NM_153704.6(TMEM67):c.1066-1G>A
NM_153704.6(TMEM67):c.1132-1G>T
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.1288+1G>A
NM_153704.6(TMEM67):c.1289-16_1289-12del
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.6(TMEM67):c.1518+2T>C
NM_153704.6(TMEM67):c.1576-2del
NM_153704.6(TMEM67):c.1645C>A (p.Arg549Ser)
NM_153704.6(TMEM67):c.1674+1G>A rs1211156516
NM_153704.6(TMEM67):c.1675-1G>T
NM_153704.6(TMEM67):c.1774-6_1774-3inv
NM_153704.6(TMEM67):c.1861-1G>A
NM_153704.6(TMEM67):c.2018T>C (p.Val673Ala)
NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val) rs863225238
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val) rs112261772
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.2322+1G>T
NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)
NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2764+2T>G
NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)
NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)
NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)
NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)
NM_153704.6(TMEM67):c.406+1G>A
NM_153704.6(TMEM67):c.407-1G>T
NM_153704.6(TMEM67):c.407-2A>G rs2130576231
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
NM_153704.6(TMEM67):c.576+2T>C
NM_153704.6(TMEM67):c.577-12_577-1delinsAA
NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
NM_153704.6(TMEM67):c.754A>G (p.Met252Val)
NM_153704.6(TMEM67):c.869+1G>C
NM_153704.6(TMEM67):c.978+1G>A rs1563458773

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