ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center: Collection method of the submission from Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 121
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143 0.00278
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys) rs61754388 0.00051
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_001918.5(DBT):c.901C>T (p.Arg301Cys) rs185492864 0.00025
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849 0.00024
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter) rs35138315 0.00011
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer) rs772570880 0.00006
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371 0.00004
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg) rs556552435 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132 0.00002
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001042492.3(NF1):c.2350T>C (p.Trp784Arg) rs199474730 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp) rs587777334 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_024675.4(PALB2):c.758dup (p.Ser254fs) rs515726126 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_001042492.3(NF1):c.2970_2972del (p.Met992del) rs267606606
NM_001042492.3(NF1):c.4333-2A>G rs1555618634
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) rs2145503179
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) rs121909120
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001145165.2(DOHH):c.654_655insAACC (p.Glu219fs) rs761870531
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001320.7(CSNK2B):c.292-2A>G rs1802000298
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys) rs869025203
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001376.5(DYNC1H1):c.2327C>T (p.Pro776Leu) rs1057518083
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu) rs104894801
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) rs749085653
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del) rs864309522
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser) rs1747669042
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) rs886039763
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter) rs777593389
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter) rs1057516559
NM_152564.5(VPS13B):c.9331-1G>A rs386834119
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641

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