ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "pathogenic" from GeneDx

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: 65
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971 0.00003
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) rs373715782 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000090.4(COL3A1):c.3166G>A (p.Gly1056Ser) rs1223008559 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala) rs876658713 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala) rs1791962073
NM_000089.4(COL1A2):c.2989G>A (p.Gly997Ser) rs1562907287
NM_000132.4(F8):c.5587-93C>T rs1264918703
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.3(NF1):c.3826C>G (p.Arg1276Gly) rs199474742
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001844.5(COL2A1):c.1358G>A (p.Gly453Asp) rs794727339
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn) rs1057523861
NM_021939.4(FKBP10):c.392-2A>G rs1555616334
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135

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