ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ and "uncertain significance" from any submitter

Minimum review status of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+: Collection method of the submission from Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 72
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) rs745636376 0.00002
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val) rs730880694 0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs) rs1553940935 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.415G>T (p.Val139Leu) rs2138684666
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln) rs2125194268
NM_001139.3(ALOX12B):c.769C>G (p.His257Asp) rs1233776328
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs) rs2154347788
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His) rs1569420470
NM_001348716.2(KDM6B):c.4737+1G>A rs2151380267
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys) rs1555410941
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser) rs62637035
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_006005.3(WFS1):c.1511C>G (p.Pro504Arg) rs28937892
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys) rs2150779357
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965

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