ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego and "uncertain significance" from any submitter

Minimum review status of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego: Collection method of the submission from Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 48
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_000097.7(CPOX):c.1171C>T (p.Arg391Trp) rs375923779 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_001358530.2(MOCS1):c.1150+20G>A rs752653792 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp) rs121908081 0.00001
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter) rs778868393 0.00001
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000257.4(MYH7):c.1664A>G (p.Asn555Ser) rs876661215
NM_000335.5(SCN5A):c.4427A>C (p.Lys1476Thr)
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000481.4(AMT):c.797T>C (p.Leu266Pro) rs2049051428
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys) rs1600989183
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe) rs1553463676
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_006767.4(LZTR1):c.209A>G (p.Lys70Arg)
NM_006767.4(LZTR1):c.677C>T (p.Pro226Leu) rs2147964011
NM_007315.4(STAT1):c.1168A>G (p.Met390Val) rs1574648919
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu) rs141970072
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) rs1297388989
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_139276.3(STAT3):c.82A>G (p.Met28Val) rs2145013673
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418

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