ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Invitae and "likely benign" 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:
ClinVar version:
Total variants with conflicting interpretations: 56
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HGVS dbSNP gnomAD frequency
UGT1A1*6 rs4148323 0.00891
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) rs767539005 0.00006
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428 0.00004
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000275.3(OCA2):c.1080C>T (p.Ser360=) rs373775562 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001242957.3(MAK):c.7C>T (p.Arg3Ter) rs558628181 0.00001
NM_000166.6(GJB1):c.*15C>T rs1057520778
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000548.5(TSC2):c.3622T>G (p.Trp1208Gly) rs45482795
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs)
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) rs1557116163
NM_016239.4(MYO15A):c.5964+3G>A rs530975087
NM_022124.6(CDH23):c.2359_2382del (p.Leu787_Asp794del) rs886038668
NM_022124.6(CDH23):c.9199-4G>A rs369900526
Single allele

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