ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "uncertain significance" 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: 48
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HGVS dbSNP
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000018.3(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000046.4(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000053.3(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000153.3(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000199.3(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000789.3(ACE):c.1522C>T (p.Arg508Ter) rs367797185
NM_001080463.1(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001083116.1(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001110792.1(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001271208.1(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001281723.2(BTD):c.517G>A (p.Ala173Thr) rs13073139
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001830.3(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_003060.3(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222
NM_003482.3(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_004278.3(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004453.3(ETFDH):c.1773_1774delAT (p.Cys592Terfs) rs767795266
NM_006929.5(SKIV2L):c.1120C>T (p.Arg374Ter) rs200818962
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_020166.4(MCCC1):c.137G>A (p.Gly46Glu) rs199517715
NM_021007.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_024531.4(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204
NM_032645.4(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_138694.3(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.3(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_174917.4(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_176787.4(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_206933.2(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
m.8344A>G rs118192098

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