ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital and "likely pathogenic" from any submitter

Minimum review status of the submission from Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital: Collection method of the submission from Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 31
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HGVS dbSNP gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584 0.00036
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_003126.4(SPTA1):c.779T>C (p.Leu260Pro) rs121918634 0.00006
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000111.3(SLC26A3):c.1306C>T (p.Gln436Ter) rs386833448
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001354768.3(NRL):c.339C>G (p.Tyr113Ter) rs1566560531
NM_001384732.1(CPLANE1):c.8959-2A>G
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs) rs769917456
NM_022437.3(ABCG8):c.965-1G>C rs957176669
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter) rs1577029680
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451

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