ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "benign" from any submitter

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 59
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HGVS dbSNP
NM_000053.3(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000098.2(CPT2):c.353A>G (p.Asp118Gly) rs148035648
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000115.4(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_000136.2(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000156.5(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000313.3(PROS1):c.234+5G>A rs187264712
NM_000318.2(PEX2):c.209A>G (p.Tyr70Cys) rs35689779
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.4088C>T (p.Ala1363Val) rs774603798
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_001029883.2(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001267550.2(TTN):c.23378-10C>A rs72648975
NM_001271208.1(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.1(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.1(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) rs61736002
NM_001482.2(GATM):c.407C>T (p.Thr136Met) rs148564534
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_003156.3(STIM1):c.1571C>T (p.Ser524Phe) rs141215990
NM_004369.3(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193
NM_004387.3(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904
NM_005006.6(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005219.4(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129
NM_005732.3(RAD50):c.3036+5G>A rs181016343
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006612.5(KIF1C):c.1165+4G>A rs192489748
NM_007215.3(POLG2):c.122G>A (p.Gly41Glu) rs146504115
NM_007254.3(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_012082.3(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152
NM_012434.4(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232
NM_014780.4(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654
NM_015192.3(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839
NM_016373.3(WWOX):c.816G>T (p.Leu272Phe) rs186745328
NM_016725.2(FOLR1):c.493+2T>C rs144637717
NM_017777.3(MKS1):c.1436G>A (p.Arg479His) rs111315726
NM_018127.6(ELAC2):c.560-2A>G rs149733287
NM_018341.2(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330
NM_020435.3(GJC2):c.947C>T (p.Pro316Leu) rs760502262
NM_020964.2(EPG5):c.2063T>C (p.Phe688Ser) rs61978576
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107
NM_031885.3(BBS2):c.805-20A>G rs41280892
NM_033629.5(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_130837.2(OPA1):c.113_130delGAAGCATTTATCATTCAC (p.Arg38_Ser43del) rs863224140
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_152743.3(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932

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