ClinVar Miner

List of variants reported as likely pathogenic for obsolete MRX78

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.1401+2T>A
NM_001111125.3(IQSEC2):c.1402-124_1533del
NM_001111125.3(IQSEC2):c.2295C>G (p.Asn765Lys)
NM_001111125.3(IQSEC2):c.2297+2T>C rs2147096217
NM_001111125.3(IQSEC2):c.2460-2A>G rs1602279457
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2519T>C (p.Phe840Ser) rs2074335877
NM_001111125.3(IQSEC2):c.2551C>T (p.Gln851Ter)
NM_001111125.3(IQSEC2):c.2582+1del rs2074335019
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp) rs1057521657
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro)
NM_001111125.3(IQSEC2):c.3005A>G (p.Asp1002Gly) rs2147049209
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3284_3310del (p.Leu1095_Arg1103del) rs2147015547
NM_001111125.3(IQSEC2):c.3451+1G>C
NM_001111125.3(IQSEC2):c.3463C>G (p.Arg1155Gly) rs2074117985
NM_001111125.3(IQSEC2):c.3474C>T (p.Ser1158=) rs2147010150
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter) rs1569291699
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001111125.3(IQSEC2):c.4038_4039dup (p.Ala1347fs) rs1064795512
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs) rs2074096700
NM_001111125.3(IQSEC2):c.4285_4286del (p.Ser1429fs) rs2147000837
NM_001111125.3(IQSEC2):c.586_707+728del rs2146544783
NM_001111125.3(IQSEC2):c.738-1G>A
NM_001111125.3(IQSEC2):c.943dup (p.Arg315fs) rs2147127449
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs) rs2074458024

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