ClinVar Miner

Variants with conflicting interpretations "benign" from Invitae and "risk factor" from any submitter

Minimum review status of the submission from Invitae: Collection method of the submission from Invitae:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 37
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HGVS dbSNP gnomAD frequency
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_002075.4(GNB3):c.825C>T (p.Ser275=) rs5443 0.44600
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) rs1169288 0.35489
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649 0.33080
NM_006208.3(ENPP1):c.517A>C (p.Lys173Gln) rs1044498 0.32168
NM_002392.6(MDM2):c.14+309T>G rs2279744 0.30651
NM_001277059.2(ERCC6):c.-76C>G rs3793784 0.29732
NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=) rs1051730 0.25972
NM_002658.6(PLAU):c.422= (p.Leu141=) rs2227564 0.18805
NM_001709.5(BDNF):c.196G>A (p.Val66Met) rs6265 0.14533
NM_000064.4(C3):c.304C>G (p.Arg102Gly) rs2230199 0.14228
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_015967.8(PTPN22):c.1858= (p.Trp620=) rs2476601 0.06839
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232 0.03201
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
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_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln) rs121912497 0.01005
NM_001001331.4(ATP2B2):c.1891G>A (p.Val631Met) rs61736451 0.00554
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_003265.3(TLR3):c.2224C>T (p.Leu742Phe) rs147431766 0.00153
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348 0.00058
NM_032737.4(LMNB2):c.1279G>A (p.Ala427Thr) rs57521499 0.00007
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_001394783.1(CCR5):c.554_585del (p.Ser185fs) rs333
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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