ClinVar Miner

Variants with conflicting interpretations "likely benign" from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden and "uncertain significance" from any submitter

Minimum review status of the submission from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden: Collection method of the submission from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 35
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HGVS dbSNP gnomAD frequency
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00283
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_003001.5(SDHC):c.*78G>A rs182629842 0.00178
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00164
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00128
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00127
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00101
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00079
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00070
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00062
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00042
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00013
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00009
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_024529.5(CDC73):c.-4dup rs545666726

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