ClinVar Miner

List of variants reported as pathogenic for obsolete MRX78 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_53263401)_(53280376_?)del
NC_000023.10:g.(?_53270946)_(53271111_?)del
NC_000023.10:g.(?_53279441)_(53280376_?)del
NM_001111125.3(IQSEC2):c.1048del (p.Ala350fs) rs2074443766
NM_001111125.3(IQSEC2):c.1066_1069del (p.Thr356fs)
NM_001111125.3(IQSEC2):c.1078dup (p.Gln360fs) rs1602291861
NM_001111125.3(IQSEC2):c.1186G>T (p.Glu396Ter) rs1602291658
NM_001111125.3(IQSEC2):c.1296T>G (p.Tyr432Ter) rs2147121012
NM_001111125.3(IQSEC2):c.1429G>T (p.Glu477Ter)
NM_001111125.3(IQSEC2):c.1498G>T (p.Glu500Ter)
NM_001111125.3(IQSEC2):c.1513C>T (p.Gln505Ter)
NM_001111125.3(IQSEC2):c.1517_1518insTCTT (p.Glu506fs) rs2074383129
NM_001111125.3(IQSEC2):c.1551_1558del (p.Leu518fs) rs1556863492
NM_001111125.3(IQSEC2):c.1576C>T (p.Gln526Ter)
NM_001111125.3(IQSEC2):c.1579C>T (p.Gln527Ter) rs1569302816
NM_001111125.3(IQSEC2):c.157C>T (p.Gln53Ter)
NM_001111125.3(IQSEC2):c.1586_1587del (p.Pro529fs) rs2074381038
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter) rs1602284689
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter) rs2074379209
NM_001111125.3(IQSEC2):c.1649dup (p.Leu551fs) rs1556863398
NM_001111125.3(IQSEC2):c.1676del (p.Pro559fs) rs1556863340
NM_001111125.3(IQSEC2):c.1813del (p.Asp605fs) rs2074374579
NM_001111125.3(IQSEC2):c.1925del (p.Pro642fs) rs1556863165
NM_001111125.3(IQSEC2):c.2026del (p.Ala676fs) rs2074369642
NM_001111125.3(IQSEC2):c.2167G>T (p.Glu723Ter)
NM_001111125.3(IQSEC2):c.2305G>T (p.Glu769Ter) rs2147089995
NM_001111125.3(IQSEC2):c.2336_2337del (p.Gly779fs) rs2147089642
NM_001111125.3(IQSEC2):c.2352_2353del (p.Pro785fs)
NM_001111125.3(IQSEC2):c.2380G>T (p.Glu794Ter) rs1569300687
NM_001111125.3(IQSEC2):c.2420dup (p.Gly808fs)
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter) rs587777261
NM_001111125.3(IQSEC2):c.2684dup (p.Met895fs)
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter) rs2074317360
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter) rs1057520858
NM_001111125.3(IQSEC2):c.2848C>T (p.Gln950Ter)
NM_001111125.3(IQSEC2):c.2889+1G>A rs1556861311
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) rs1131691887
NM_001111125.3(IQSEC2):c.3074del (p.Phe1025fs) rs1602264294
NM_001111125.3(IQSEC2):c.3106C>T (p.Gln1036Ter) rs2147032671
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter) rs2147027403
NM_001111125.3(IQSEC2):c.3237del (p.Ile1080fs) rs2147026571
NM_001111125.3(IQSEC2):c.3254del (p.Glu1085fs)
NM_001111125.3(IQSEC2):c.3384_3385del (p.Tyr1129fs)
NM_001111125.3(IQSEC2):c.3387C>A (p.Tyr1129Ter) rs374220843
NM_001111125.3(IQSEC2):c.3387C>G (p.Tyr1129Ter) rs374220843
NM_001111125.3(IQSEC2):c.3433C>T (p.Arg1145Ter) rs1556859652
NM_001111125.3(IQSEC2):c.3611_3791del (p.Phe1204fs) rs2147003883
NM_001111125.3(IQSEC2):c.3781C>T (p.Gln1261Ter)
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001111125.3(IQSEC2):c.4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4214dup (p.Gly1407fs) rs2147001369
NM_001111125.3(IQSEC2):c.424C>T (p.Gln142Ter)
NM_001111125.3(IQSEC2):c.4324_4334del (p.Pro1442fs) rs2074091750
NM_001111125.3(IQSEC2):c.4334del (p.Pro1445fs) rs2147000428
NM_001111125.3(IQSEC2):c.4402_4418dup (p.Ser1474fs) rs2146999877
NM_001111125.3(IQSEC2):c.4410dup (p.Asn1471fs) rs2146999914
NM_001111125.3(IQSEC2):c.4419dup (p.Ser1474fs) rs1569290954
NM_001111125.3(IQSEC2):c.4434_4438dup (p.Lys1480fs) rs1556858912
NM_001111125.3(IQSEC2):c.542del (p.Gly181fs) rs1602383045
NM_001111125.3(IQSEC2):c.547G>T (p.Glu183Ter)
NM_001111125.3(IQSEC2):c.627del (p.Ser210fs) rs2146548468
NM_001111125.3(IQSEC2):c.659del (p.Gly220fs)
NM_001111125.3(IQSEC2):c.702_705del (p.Arg235fs)
NM_001111125.3(IQSEC2):c.705delA (p.Lys236fs) rs2146547822
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481
NM_001111125.3(IQSEC2):c.828del (p.Ser277fs) rs1556865104
NM_001111125.3(IQSEC2):c.848del (p.Gly283fs) rs782660318
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs) rs782660318
NM_001111125.3(IQSEC2):c.854del (p.Pro285fs)
NM_001111125.3(IQSEC2):c.863del (p.Val288fs) rs1556865060
NM_001111125.3(IQSEC2):c.903del (p.Ser302fs)

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