ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center and "uncertain significance" from any submitter

Minimum review status of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center: Collection method of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 65
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02950
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000587.4(C7):c.2350+2T>C rs201240159 0.00031
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter) rs933245871 0.00007
NM_017837.4(PIGV):c.439C>T (p.Gln147Ter) rs185641230 0.00006
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) rs745636376 0.00002
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000179.3(MSH6):c.3439-1G>T rs587779263
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000432.4(MYL2):c.483C>A (p.His161Gln) rs886039108
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter) rs796925245
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser) rs62637035
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007294.4(BRCA1):c.5406+5G>A rs80358073
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878

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