ClinVar Miner

List of variants reported as uncertain significance by Daryl Scott Lab, Baylor College of Medicine

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ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile) rs145897018 0.00129
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674 0.00120
NM_001174147.2(LMX1B):c.886+18C>T rs529668402 0.00104
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val) rs149853330 0.00056
NM_020987.5(ANK3):c.4400A>G (p.Lys1467Arg) rs139982397 0.00056
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00035
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) rs143328343 0.00031
NM_001145026.2(PTPRQ):c.1847A>G (p.Gln616Arg) rs527967292 0.00030
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser) rs113718290 0.00030
NM_001355436.2(SPTB):c.5680G>A (p.Gly1894Arg) rs116677071 0.00016
NM_014165.4(NDUFAF4):c.1A>G (p.Met1Val) rs558262843 0.00016
NM_001164508.2(NEB):c.21173C>T (p.Thr7058Ile) rs200523155 0.00015
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001286577.2(C2CD3):c.5882-332A>G rs200146492 0.00013
NM_004525.3(LRP2):c.5686G>A (p.Val1896Ile) rs139705387 0.00012
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_001004356.3(FGFRL1):c.1328G>C (p.Gly443Ala) rs759581394 0.00011
NM_198525.3(KIF7):c.2482G>A (p.Val828Met) rs143915145 0.00011
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala) rs985345843 0.00009
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505 0.00008
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373 0.00006
NM_001377229.1(DISP1):c.4054C>T (p.Pro1352Ser) rs952023183 0.00004
NM_005876.5(SPEG):c.5897G>C (p.Gly1966Ala) rs759849782 0.00004
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp) rs765538745 0.00004
NM_001277115.2(DNAH11):c.1671A>C (p.Glu557Asp) rs764968620 0.00003
NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser) rs771579029 0.00003
NM_005876.5(SPEG):c.418G>A (p.Asp140Asn) rs202151661 0.00003
NM_018116.4(MSTO1):c.1600C>T (p.Arg534Cys) rs779998857 0.00003
NM_144643.4(SCLT1):c.638C>T (p.Thr213Ile) rs760824351 0.00003
NM_005378.6(MYCN):c.854G>T (p.Arg285Leu) rs747134309 0.00002
NM_144643.4(SCLT1):c.1421T>C (p.Ile474Thr) rs747582277 0.00002
NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser) rs533866031 0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg) rs768647508 0.00001
NM_000540.3(RYR1):c.8991C>A (p.Phe2997Leu) rs1377413977 0.00001
NM_000540.3(RYR1):c.9472+9G>A rs1392237616 0.00001
NM_001004356.3(FGFRL1):c.886A>G (p.Ile296Val) rs753437773 0.00001
NM_001042681.2(RERE):c.3292C>G (p.Leu1098Val) rs1215653376 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His) rs755306871 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001123385.2(BCOR):c.3512C>T (p.Pro1171Leu) rs1474217458 0.00001
NM_001330078.2(NRXN1):c.2249G>A (p.Arg750His) rs200776618 0.00001
NM_001330288.2(SMARCC2):c.1744-2A>G rs1025329696 0.00001
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys) rs781012274 0.00001
NM_004341.5(CAD):c.2492G>A (p.Arg831His) rs779903352 0.00001
NM_005529.7(HSPG2):c.3178C>T (p.Arg1060Trp) rs779360555 0.00001
NM_005529.7(HSPG2):c.4003G>A (p.Ala1335Thr) rs532799636 0.00001
NM_020937.4(FANCM):c.1271G>A (p.Arg424His) rs139726733 0.00001
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp) rs751632783 0.00001
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser) rs760225405 0.00001
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) rs374677519 0.00001
NM_080605.4(B3GALT6):c.929A>G (p.Tyr310Cys) rs1250638849 0.00001
GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)
GRCh38/hg38 12q24.33(chr12:132804406-132944910)
GRCh38/hg38 13q12.3(chr13:30194283-31591879)
GRCh38/hg38 13q13.3(chr13:38940342-39433293)
GRCh38/hg38 14q22.3(chr14:56283850-56400818)
GRCh38/hg38 15q11.2(chr15:22781888-23030923)
GRCh38/hg38 15q11.2(chr15:22787668-23051531)
GRCh38/hg38 15q11.2(chr15:22787849-23051049)
GRCh38/hg38 15q13.2(chr15:30097840-30527284)
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)
GRCh38/hg38 15q21.1(chr15:45092835-45433283)
GRCh38/hg38 15q26.2(chr15:94302663-94352488)
GRCh38/hg38 16p13.11(chr16:14816348-16678513)
GRCh38/hg38 16p13.3(chr16:3499966-3774794)
GRCh38/hg38 17q12(chr17:36719878-37889304)
GRCh38/hg38 17q21.31(chr17:43603558-44033313)
GRCh38/hg38 17q21.31(chr17:46130641-46273757)
GRCh38/hg38 17q23.2(chr17:61778623-62006540)
GRCh38/hg38 17q25.3(chr17:82004063-83087346)
GRCh38/hg38 1p36.32(chr1:2518272-4413203)
GRCh38/hg38 1q21.1(chr1:145635432-146019857)
GRCh38/hg38 1q32.3(chr1:212337801-213362035)
GRCh38/hg38 20p11.21(chr20:25121080-25485829)
GRCh38/hg38 20p11.22(chr20:21386174-21530996)
GRCh38/hg38 22q11.21(chr22:20354589-21405291)
GRCh38/hg38 22q13.31(chr22:44184196-45239435)
GRCh38/hg38 2p22.3(chr2:32415095-33099301)
GRCh38/hg38 2q23.3(chr2:151451642-151807929)
GRCh38/hg38 2q31.3-32.1(chr2:181915576-182470985)
GRCh38/hg38 3q24(chr3:143944349-143982303)
GRCh38/hg38 3q28(chr3:188671476-188811213)
GRCh38/hg38 4p16.3(chr4:59690-133521)
GRCh38/hg38 5p12(chr5:42502606-42696476)
GRCh38/hg38 5q34(chr5:161615157-162040104)
GRCh38/hg38 6p21.31(chr6:34587317-34856828)
GRCh38/hg38 6p25.3(chr6:259345-293593)
GRCh38/hg38 6q26(chr6:161896065-162548892)
GRCh38/hg38 7p21.3(chr7:10609869-11290301)
GRCh38/hg38 7q11.21(chr7:66791158-67272772)
GRCh38/hg38 7q21.13(chr7:89998146-90352986)
GRCh38/hg38 7q31.2(chr7:116868268-117565389)
GRCh38/hg38 7q35(chr7:146062109-146215075)
GRCh38/hg38 8p22(chr8:13396389-13807983)
GRCh38/hg38 8p22(chr8:13974643-14229824)
GRCh38/hg38 8p23.2(chr8:4079202-4329179)
GRCh38/hg38 8q21.13(chr8:81061071-81682394)
GRCh38/hg38 9p24.1(chr9:6641895-6676953)
GRCh38/hg38 9p24.3(chr9:46587-273160)
GRCh38/hg38 9q21.11(chr9:68417620-68744894)
GRCh38/hg38 9q22.33-31.1(chr9:99779833-99839574)
GRCh38/hg38 9q33.1(chr9:116667613-116806157)
GRCh38/hg38 Xp11.21(chrX:55519984-55625002)
GRCh38/hg38 Xp22.2(chrX:11240104-11903527)
GRCh38/hg38 Xp22.31(chrX:7873079-8504515)
GRCh38/hg38 Xq21.1(chrX:77914739-77914775)
GRCh38/hg38 Xq21.1(chrX:80247518-80444881)
GRCh38/hg38 Xq25(chrX:124702470-124997671)
GRCh38/hg38 Xq28(chrX:153151471-153250484)
GRCh38/hg38 Yq11.221(chrY:14071214-14175405)
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg) rs2149083027
NM_000127.3(EXT1):c.2198_2203delinsAAGAGGACGGTCTT (p.Val733fs) rs2129679465
NM_000214.3(JAG1):c.2170G>A (p.Gly724Arg) rs2067299833
NM_000382.3(ALDH3A2):c.1443+1274_1443+1275del
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000719.7(CACNA1C):c.694G>C (p.Asp232His) rs376872233
NM_000965.5(RARB):c.986G>A (p.Cys329Tyr)
NM_001042750.2(STAG2):c.1894T>A (p.Cys632Ser) rs2148326358
NM_001081550.2(THOC2):c.3781A>C (p.Asn1261His) rs1556014537
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001123385.2(BCOR):c.3331C>G (p.Pro1111Ala)
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His) rs1382225004
NM_001134771.2(SLC12A5):c.116T>A (p.Val39Asp)
NM_001170629.2(CHD8):c.639A>C (p.Pro213=) rs2139539459
NM_001378183.1(PIEZO2):c.8386A>G (p.Lys2796Glu) rs2033787153
NM_001386795.1(DTNA):c.1219G>A (p.Ala407Thr)
NM_001394998.1(TANC2):c.3183G>T (p.Lys1061Asn) rs966689202
NM_001429.4(EP300):c.3592T>C (p.Tyr1198His) rs1305375514
NM_002069.6(GNAI1):c.134G>T (p.Gly45Val) rs2115631937
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
NM_002334.4(LRP4):c.694C>A (p.Arg232Ser)
NM_002437.5(MPV17):c.160A>G (p.Met54Val)
NM_002792.4(PSMA7):c.578A>G (p.Lys193Arg)
NM_002968.3(SALL1):c.721A>G (p.Ile241Val) rs2143449563
NM_003036.4(SKI):c.647G>T (p.Arg216Leu)
NM_003468.4(FZD5):c.904dup (p.His302fs)
NM_003482.4(KMT2D):c.2186C>T (p.Pro729Leu) rs587778452
NM_003482.4(KMT2D):c.3652G>A (p.Ala1218Thr) rs2120643168
NM_004360.5(CDH1):c.862G>C (p.Asp288His) rs2152131922
NM_004525.3(LRP2):c.3608T>C (p.Val1203Ala) rs2105386662
NM_004525.3(LRP2):c.9230C>T (p.Pro3077Leu) rs2105305609
NM_005051.3(QARS1):c.1420C>G (p.Leu474Val) rs754909328
NM_005633.4(SOS1):c.3298G>T (p.Asp1100Tyr) rs1668850707
NM_005816.5(CD96):c.1181-12T>C
NM_006015.6(ARID1A):c.2660C>G (p.Pro887Arg) rs2124070027
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.1829A>G (p.Gln610Arg)
NM_006306.4(SMC1A):c.3039G>C (p.Gln1013His)
NM_007035.4(KERA):c.229T>C (p.Tyr77His)
NM_007035.4(KERA):c.331G>A (p.Gly111Arg)
NM_012310.5(KIF4A):c.2113G>A (p.Glu705Lys) rs2086218922
NM_012464.5(TLL1):c.1472A>G (p.Lys491Arg)
NM_014008.5(CCDC22):c.909+122G>A
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014423.4(AFF4):c.2896C>T (p.Pro966Ser)
NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr) rs200378599
NM_015330.6(SPECC1L):c.3137_3139del (p.Phe1046del) rs2146820479
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met) rs200445152
NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr) rs1231245538
NM_020117.11(LARS1):c.903del (p.Gln302fs) rs749373022
NM_020436.5(SALL4):c.1693C>T (p.Pro565Ser)
NM_020987.5(ANK3):c.5773GAG[1] (p.Glu1926del) rs764632652
NM_022336.4(EDAR):c.1133C>T (p.Ala378Val) rs2105371700
NM_023110.3(FGFR1):c.1352C>A (p.Ser451Tyr)
NM_024665.7(TBL1XR1):c.1486G>A (p.Asp496Asn) rs1713133035
NM_033026.6(PCLO):c.4892A>T (p.Asp1631Val) rs1795508585
NM_033026.6(PCLO):c.824_826del (p.Gln275del) rs565675570
NM_130466.4(UBE3B):c.3014A>C (p.Gln1005Pro) rs2136147852
NM_133379.5(TTN):c.11106G>C (p.Leu3702Phe)
NM_133433.4(NIPBL):c.1849G>A (p.Glu617Lys) rs1744586399
NM_153704.6(TMEM67):c.1021G>A (p.Gly341Arg)
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
NM_178140.4(PDZD2):c.5108G>C (p.Ser1703Thr)
NM_178857.6(RP1L1):c.6689C>A (p.Thr2230Asn)
NM_181486.4(TBX5):c.454C>G (p.Leu152Val) rs2136416738
NM_198525.3(KIF7):c.3365C>G (p.Ser1122Trp) rs202195179
NM_207361.6(FREM2):c.215T>C (p.Ile72Thr)

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