ClinVar Miner

Variants with conflicting interpretations "benign" from Biesecker Lab/Clinical Genomics Section, National Institutes of Health and "uncertain significance" from any submitter

Minimum review status of the submission from Biesecker Lab/Clinical Genomics Section, National Institutes of Health: Collection method of the submission from Biesecker Lab/Clinical Genomics Section, National Institutes of Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 38
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HGVS dbSNP gnomAD frequency
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) rs182126530 0.00185
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) rs29372 0.00009
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp) rs200197527
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) rs3731746
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val) rs786205349

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