ClinVar Miner

Variants with conflicting interpretations "likely benign" from Color Diagnostics, LLC DBA Color Health and "benign" from Invitae

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 111
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235 0.00873
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00096
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451 0.00081
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly) rs199473068 0.00057
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_000540.3(RYR1):c.7830C>T (p.Leu2610=) rs140063541 0.00046
NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274 0.00045
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000527.5(LDLR):c.694+9G>A rs34093283 0.00040
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039 0.00038
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000335.5(SCN5A):c.456C>T (p.Asp152=) rs190803993 0.00031
NM_000069.3(CACNA1S):c.542-13C>T rs199502458 0.00030
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104 0.00026
NM_005902.4(SMAD3):c.207-11C>T rs148430981 0.00026
NM_000527.5(LDLR):c.1705+18C>A rs186896947 0.00022
NM_000540.3(RYR1):c.3618C>T (p.Asp1206=) rs191970833 0.00019
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691 0.00019
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_000540.3(RYR1):c.14919G>A (p.Pro4973=) rs535386378 0.00016
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157 0.00013
NM_000335.5(SCN5A):c.4200C>T (p.Asn1400=) rs778436757 0.00013
NM_000268.4(NF2):c.465C>T (p.Pro155=) rs374911526 0.00011
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000527.5(LDLR):c.2389+8C>T rs747170426 0.00011
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00008
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00008
NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=) rs189797100 0.00006
NM_000368.5(TSC1):c.1808C>T (p.Pro603Leu) rs751247705 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000548.5(TSC2):c.3762G>A (p.Ser1254=) rs144891432 0.00006
NM_000335.5(SCN5A):c.1755C>T (p.His585=) rs201024847 0.00005
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) rs756864388 0.00005
NM_003242.6(TGFBR2):c.95-7T>C rs764533083 0.00005
NM_000335.5(SCN5A):c.42C>T (p.Arg14=) rs183988524 0.00004
NM_000335.5(SCN5A):c.435C>T (p.Cys145=) rs587781159 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.2427C>T (p.Tyr809=) rs577929869 0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329 0.00004
NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=) rs376734571 0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000527.5(LDLR):c.1002C>T (p.Ile334=) rs762853526 0.00003
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215 0.00003
NM_000548.5(TSC2):c.2781C>T (p.Thr927=) rs376275903 0.00003
NM_000548.5(TSC2):c.3663G>A (p.Ser1221=) rs137854268 0.00003
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825 0.00003
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559 0.00003
NM_000548.5(TSC2):c.734G>A (p.Arg245His) rs397515011 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146 0.00002
NM_005902.4(SMAD3):c.372C>A (p.Pro124=) rs765624013 0.00002
NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) rs377715551 0.00001
NM_000335.5(SCN5A):c.4435-13C>T rs768122161 0.00001
NM_000335.5(SCN5A):c.5772C>G (p.Ser1924=) rs199687668 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000368.5(TSC1):c.2604C>T (p.Asn868=) rs147163264 0.00001
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_000527.5(LDLR):c.818-15C>G rs79433354 0.00001
NM_000548.5(TSC2):c.1662G>A (p.Ser554=) rs775617895 0.00001
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433 0.00001
NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu) rs140662085
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000335.5(SCN5A):c.1110G>A (p.Thr370=) rs202025024
NM_000335.5(SCN5A):c.3468C>T (p.Leu1156=) rs570719978
NM_000335.5(SCN5A):c.4071G>A (p.Gly1357=) rs780532060
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.817+9T>C
NM_000531.6(OTC):c.582C>A (p.Ile194=) rs200564773
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000548.5(TSC2):c.2211C>T (p.Leu737=) rs369851248
NM_000548.5(TSC2):c.3490G>T (p.Ala1164Ser) rs776579875
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612

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