ClinVar Miner

Variants with conflicting interpretations "benign" from PreventionGenetics, part of Exact Sciences and "risk factor" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 41
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HGVS dbSNP gnomAD frequency
NM_001994.3(F13B):c.344G>A (p.Arg115His) rs6003 0.75658
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_000029.4(AGT):c.803T>C (p.Met268Thr) rs699 0.57702
NM_001072.4(UGT1A6):c.862-10021T>G rs4124874 0.56024
NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) rs6280 0.53929
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_030803.7(ATG16L1):c.898A>G (p.Thr300Ala) rs2241880 0.43552
NM_003263.4(TLR1):c.743A>G (p.Asn248Ser) rs4833095 0.43490
NM_000446.7(PON1):c.575A>G (p.Gln192Arg) rs662 0.42215
NM_053056.3(CCND1):c.723G>A (p.Pro241=) rs9344 0.38311
NM_001742.4(CALCR):c.1340T>C (p.Leu447Pro) rs1801197 0.35816
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_000446.7(PON1):c.163T>A (p.Leu55Met) rs854560 0.29107
NM_003749.3(IRS2):c.3170G>A (p.Gly1057Asp) rs1805097 0.28401
NC_000017.11:g.34252769A>G rs1024611 0.27904
NM_173851.3(SLC30A8):c.973C>T (p.Arg325Trp) rs13266634 0.26559
NM_198437.3(AURKA):c.91T>A (p.Phe31Ile) rs2273535 0.23195
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) rs1800566 0.20869
NM_002711.4(PPP1R3A):c.2713G>T (p.Asp905Tyr) rs1799999 0.16138
NM_001709.5(BDNF):c.196G>A (p.Val66Met) rs6265 0.14533
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_025194.3(ITPKC):c.1155+9G>C rs28493229 0.10089
NM_001463.4(FRZB):c.598C>T (p.Arg200Trp) rs288326 0.08361
NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile) rs8042919 0.07196
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu) rs34971363 0.05162
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met) rs61736451 0.00554
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_001394783.1(CCR5):c.554_585del (p.Ser185fs) rs333
NM_001463.4(FRZB):c.970C>G (p.Arg324Gly) rs7775

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