ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Sema4, Sema4 and "likely pathogenic" from any submitter

Minimum review status of the submission from Sema4, Sema4: Collection method of the submission from Sema4, Sema4:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 46
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HGVS dbSNP gnomAD frequency
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter) rs587781948 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_005476.7(GNE):c.737G>A (p.Arg246Gln) rs121908629 0.00003
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000249.4(MLH1):c.207+1G>A rs267607718 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.4110-1G>A rs1060501692
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.349G>C (p.Ala117Pro) rs886039363
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) rs1060501335
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) rs730881832
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs) rs753862052
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717

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