ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Blueprint Genetics and "likely benign" from any submitter

Minimum review status of the submission from Blueprint Genetics: Collection method of the submission from Blueprint Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 84
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534 0.00573
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_000593.6(TAP1):c.1547C>T (p.Pro516Leu) rs2228106 0.00282
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr) rs11569541 0.00226
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_001267550.2(TTN):c.2775+4G>A rs548681281 0.00086
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_012452.3(TNFRSF13B):c.568G>C (p.Gly190Arg) rs150101848 0.00083
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_032415.7(CARD11):c.3145-3C>T rs200456391 0.00077
NM_003239.5(TGFB3):c.646+13T>C rs780891440 0.00076
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119 0.00059
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile) rs145057248 0.00035
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys) rs201025468 0.00031
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614 0.00025
NM_001375808.2(LPIN2):c.1168+6C>T rs200130790 0.00024
NM_004006.3(DMD):c.1337A>G (p.His446Arg) rs72468699 0.00023
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_032415.7(CARD11):c.1595C>T (p.Thr532Met) rs201780608 0.00021
NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile) rs56015306 0.00020
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_017999.5(RNF31):c.3048C>T (p.Asp1016=) rs377298249 0.00014
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) rs375025242 0.00011
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys) rs139646545 0.00009
NM_001267550.2(TTN):c.17183-7C>T rs371785683 0.00009
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212 0.00009
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=) rs140246538 0.00005
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_002294.3(LAMP2):c.929-5T>C rs375341409 0.00004
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu) rs148551147 0.00004
NM_000257.4(MYH7):c.1632C>T (p.Thr544=) rs587781089 0.00003
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=) rs763108716 0.00002
NM_052813.5(CARD9):c.1341C>T (p.Thr447=) rs774391206 0.00002
NM_000095.3(COMP):c.1563G>A (p.Pro521=) rs756075225 0.00001
NM_000138.5(FBN1):c.2127A>C (p.Ala709=) rs886038990 0.00001
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=) rs886058460 0.00001
NM_000501.4(ELN):c.1622-6C>T rs1280128851 0.00001
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln) rs141199483 0.00001
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln) rs761881020 0.00001
NM_001844.5(COL2A1):c.3215C>T (p.Pro1072Leu) rs1489240592 0.00001
NM_000090.4(COL3A1):c.2445+19A>G rs776819930
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000138.5(FBN1):c.2539+10T>A rs878853679
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000238.4(KCNH2):c.2692+8G>A rs200032281
NM_000238.4(KCNH2):c.77-5C>T rs72549419
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) rs730880049
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001844.5(COL2A1):c.2714T>C (p.Val905Ala) rs1271505111
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_006182.4(DDR2):c.243T>A (p.Asp81Glu) rs138537887
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe) rs79943145
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) rs754312950
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) rs140825693
NM_017617.5(NOTCH1):c.3172-5C>T rs762077987
NM_198334.3(GANAB):c.253-4G>T rs202154028

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