ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "likely pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
ClinVar version:

Total variants with conflicting interpretations: 151

HGVS dbSNP
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1
NM_000027.3(AGA):c.200_201delAG (p.Glu67Alafs) rs386833420
NM_000027.3(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.3(AGA):c.336delT (p.Ile112Metfs) rs386833422
NM_000027.3(AGA):c.503G>A (p.Trp168Ter) rs386833430
NM_000027.3(AGA):c.807_940del134 rs386833437
NM_000027.4(AGA):c.800dup (p.Pro268Alafs) rs386833436
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000112.3(SLC26A2):c.1394delT (p.Leu465Cysfs) rs386833495
NM_000112.3(SLC26A2):c.1650delG (p.Ser551Valfs) rs386833497
NM_000112.3(SLC26A2):c.1976delT (p.Leu659Terfs) rs386833499
NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.3(SLC26A2):c.700-1G>C rs200963884
NM_000170.2(GLDC):c.1054delA (p.Thr352Glnfs) rs386833518
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.1382G>A (p.Arg461Gln) rs386833524
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.1952A>G (p.His651Arg) rs386833536
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.2311G>A (p.Gly771Arg) rs386833553
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.2891dupA (p.Tyr964Terfs) rs386833572
NM_000170.2(GLDC):c.28delC (p.Leu10Cysfs) rs386833574
NM_000170.2(GLDC):c.793delC (p.Gln265Serfs) rs386833586
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.2(GLDC):c.847G>C (p.Ala283Pro) rs386833589
NM_000277.2(PAH):c.442-2A>C rs281865448
NM_000277.2(PAH):c.632C>T (p.Pro211Leu) rs281865443
NM_000277.3(PAH):c.164T>C (p.Phe55Ser) rs281865438
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.785T>G (p.Val262Gly) rs281865445
NM_000277.3(PAH):c.796A>C (p.Thr266Pro) rs62508752
NM_000310.3(PPT1):c.114delG (p.Trp38Cysfs) rs386833625
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.3(PPT1):c.169dupA (p.Met57Asnfs) rs386833634
NM_000310.3(PPT1):c.255_257delCTT (p.Phe85del) rs386833637
NM_000310.3(PPT1):c.398delT (p.Met133Argfs) rs386833644
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.490C>T (p.Arg164Ter) rs386833649
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000383.3(AIRE):c.1638A>T (p.Ter546Cys) rs386833673
NM_000481.3(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.3(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.3(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000720.3(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001042432.1(CLN3):c.1000C>T (p.Arg334Cys) rs386833694
NM_001042432.1(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_001042432.1(CLN3):c.1195G>T (p.Glu399Ter) rs386833701
NM_001042432.1(CLN3):c.233dupG (p.Thr80Asnfs) rs386833712
NM_001042432.1(CLN3):c.533+1G>C rs386833728
NM_001042432.1(CLN3):c.558_559delAG (p.Gly187Aspfs) rs386833729
NM_001042432.1(CLN3):c.790+3A>C rs386833738
NM_001042432.1(CLN3):c.883G>T (p.Glu295Ter) rs121434286
NM_001080522.2(CC2D2A):c.1339delG (p.Ala447Argfs) rs386833745
NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748
NM_001126105.2(SLC7A7):c.1460delG (p.Cys487Leufs) rs386833809
NM_001128425.1(MUTYH):c.733C>T (p.Arg245Cys) rs200495564
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001243473.2(B9D1):c.400+2T>C rs143149764
NM_001287.5(CLCN7):c.296A>G (p.Tyr99Cys) rs387907576
NM_001351527.1(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.3(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.3(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_004260.3(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844
NM_004328.4(BCS1L):c.320+1G>T rs386833856
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1219C>T (p.Arg407Trp) rs386833874
NM_004646.3(NPHS1):c.1234G>T (p.Gly412Cys) rs142008044
NM_004646.3(NPHS1):c.1275delC (p.Lys426Argfs) rs386833876
NM_004646.3(NPHS1):c.1307_1308dupAC (p.Val437Thrfs) rs386833878
NM_004646.3(NPHS1):c.1337T>A (p.Ile446Asn) rs386833879
NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880
NM_004646.3(NPHS1):c.139delG (p.Ala47Profs) rs386833882
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.1715G>A (p.Ser572Asn) rs386833889
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004646.3(NPHS1):c.2071+2T>C rs386833901
NM_004646.3(NPHS1):c.2156_2163delTGCACTGC (p.Leu719Profs) rs386833903
NM_004646.3(NPHS1):c.2227C>T (p.Arg743Cys) rs386833909
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2491C>T (p.Arg831Cys) rs386833915
NM_004646.3(NPHS1):c.2596C>T (p.Arg866Ter) rs386833920
NM_004646.3(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_004646.3(NPHS1):c.313G>A (p.Asp105Asn) rs386833932
NM_004646.3(NPHS1):c.398-1G>A rs386833942
NM_004646.3(NPHS1):c.515_517delCCA (p.Thr172del) rs386833947
NM_004646.3(NPHS1):c.534delG (p.Thr179Glnfs) rs386833952
NM_005105.4(RBM8A):c.67+32G>C rs201779890
NM_006493.2(CLN5):c.433C>T (p.Arg145Ter) rs386833971
NM_006493.2(CLN5):c.524T>G (p.Leu175Ter) rs386833972
NM_006493.2(CLN5):c.613C>T (p.Pro205Ser) rs386833977
NM_006493.2(CLN5):c.669dupC (p.Trp224Leufs) rs386833979
NM_006493.2(CLN5):c.671G>A (p.Trp224Ter) rs386833980
NM_006493.2(CLN5):c.955_970del16 (p.Gly319Phefs) rs386833983
NM_012434.4(SLC17A5):c.1138_1139delGT (p.Val380Serfs) rs386833988
NM_012434.4(SLC17A5):c.291G>A (p.Thr97=) rs386833990
NM_012434.4(SLC17A5):c.507delA (p.Leu170Terfs) rs386833992
NM_012434.4(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993
NM_015294.4(TRIM37):c.860G>A (p.Ser287Asn) rs386834008
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) rs386834011
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) rs386834018
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) rs386834019
NM_017739.3(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.3(POMGNT1):c.1876delG (p.Val626Serfs) rs386834022
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.652+1G>A rs386834035
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336
NM_017739.3(POMGNT1):c.982dupG (p.Val328Glyfs) rs386834040
NM_017777.3(MKS1):c.1024+1G>A rs199874059
NM_017777.3(MKS1):c.1450_1453dupGGCA (p.Thr485Argfs) rs386834044
NM_017777.3(MKS1):c.184_190delACTGCCA (p.Thr62Valfs) rs386834046
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.515+1G>A rs201933838
NM_017777.3(MKS1):c.51_55dupCCGGG (p.Asp19Alafs) rs386834051
NM_017777.3(MKS1):c.80+2T>C rs386834052
NM_017777.3(MKS1):c.958G>A (p.Val320Ile) rs386834053
NM_017890.4(VPS13B):c.10156dupA (p.Thr3386Asnfs) rs386834055
NM_017890.4(VPS13B):c.10946G>A (p.Trp3649Ter) rs386834057
NM_017890.4(VPS13B):c.11169_11172dupGGAC (p.Arg3725Glyfs) rs386834059
NM_017890.4(VPS13B):c.11314C>T (p.Gln3772Ter) rs386834061
NM_017890.4(VPS13B):c.11695_11698delAGTG (p.Ser3901Argfs) rs386834066
NM_017890.4(VPS13B):c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs) rs386834069
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.292-2A>G rs386834079
NM_017890.4(VPS13B):c.2934+1_2934+2delGT rs180177358
NM_017890.4(VPS13B):c.4334delA (p.Gln1445Argfs) rs386834084
NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) rs386834086
NM_017890.4(VPS13B):c.5426_5427dupAG (p.Gln1810Serfs) rs180177363
NM_017890.4(VPS13B):c.5809_5810delAT (p.Ile1937Cysfs) rs386834098
NM_017890.4(VPS13B):c.7504+1G>A rs386834106
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_017890.4(VPS13B):c.916_917delGA (p.Asp306Tyrfs) rs386834117
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.562_563delCT rs386834132
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182
NM_153704.5(TMEM67):c.2322+2dupT rs386834192
NM_153704.5(TMEM67):c.579_580delAG (p.Gly195Ilefs) rs386834202
NM_198056.2(SCN5A):c.3963+1G>A rs483353016
NM_206933.2(USH2A):c.11156G>A (p.Arg3719His) rs527236139

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