ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from any submitter

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 99
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HGVS dbSNP
NM_000051.3(ATM):c.2921+2dup rs1565424654
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000059.3(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
NM_000091.4(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590
NM_000110.3(DPYD):c.1475C>T (p.Ser492Leu) rs72549304
NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000157.4(GBA):c.535G>C (p.Asp179His) rs147138516
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000267.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000360.4(TH):c.90+7dup rs780485650
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000492.3(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000527.4(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
NM_000545.6(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626
NM_001042492.3(NF1):c.5609+5G>T rs1597832498
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001198536.1(MEFV):c.277+2004_277+2007dup rs104895138
NM_001360.2(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_002693.2(POLG):c.3527C>T (p.Ser1176Leu) rs776031396
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002878.3(RAD51D):c.904-2A>T rs1403784434
NM_003060.4(SLC22A5):c.394-16T>A rs775097754
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys) rs80357222
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) rs1567769155
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser) rs80356905
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter) rs58528565
NM_172056.2(KCNH2):c.1888G>A (p.Val630Ile) rs199472958
NM_172056.2(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_198056.2(SCN5A):c.689T>C (p.Ile230Thr) rs199473073

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