ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "pathogenic" from any submitter

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 116
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HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279 0.00934
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_006715.4(MAN2C1):c.601-2A>G rs147928844 0.00120
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00044
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp) rs137852754 0.00016
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_031475.3(ESPN):c.2230G>A (p.Asp744Asn) rs121908135 0.00013
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_006918.5(SC5D):c.442A>G (p.Lys148Glu) rs775350797 0.00006
NM_198253.3(TERT):c.-57A>C rs878855297 0.00006
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_005957.5(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000175.5(GPI):c.475G>A (p.Gly159Ser) rs137853582 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg) rs370282954 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe) rs1958498953
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000298.6(PKLR):c.1378G>A (p.Val460Met) rs752034960
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000517.6(HBA2):c.420del (p.Lys140fs) rs63750520
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) rs34868397
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) rs1939615464
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_144687.4(NLRP12):c.1952C>A (p.Ser651Ter) rs781361326

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