ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Color Health, Inc and "uncertain significance" from any submitter

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 57
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HGVS dbSNP
NM_000051.3(ATM):c.2251-4A>G rs786202935
NM_000059.3(BRCA2):c.517G>T (p.Gly173Cys) rs397507768
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000251.2(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.2(MSH2):c.2105T>A (p.Val702Glu) rs587779137
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter) rs1259296823
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.5(LDLR):c.1359-5C>G rs531005522
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000546.5(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_001128425.1(MUTYH):c.1501C>T (p.Gln501Ter) rs932830392
NM_002878.3(RAD51D):c.263+1G>A rs1555570242
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_004656.4(BAP1):c.783+2T>C rs774730309
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057
NM_007294.4(BRCA1):c.5140G>T (p.Val1714Phe) rs1567769244
NM_024675.3(PALB2):c.2515-1G>C rs587776417
NM_024675.4(PALB2):c.2997-1G>A rs754465466
NM_024675.4(PALB2):c.3350+5G>A rs587782566
NM_032043.2(BRIP1):c.1340+5G>C rs869312791
NM_032043.2(BRIP1):c.206-1G>T rs1555617934
NM_032043.2(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622
NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_058216.3(RAD51C):c.571+4A>G rs587780257
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) rs730881932
NM_174936.3(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys)

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