ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Génétique des Maladies du Développement, Hospices Civils de Lyon and "likely pathogenic" from any submitter

Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon: Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 56
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_000382.3(ALDH3A2):c.798+5G>A
NM_000937.5(POLR2A):c.1462G>A (p.Val488Met) rs2070561031
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) rs1060503101
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met) rs1564493599
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp) rs797044854
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) rs1064796453
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) rs869312824
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004415.4(DSP):c.1783C>T (p.Gln595Ter)
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_012309.5(SHANK2):c.2439+1G>A rs2058899044
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu) rs1555791268
NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His) rs863225094
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser) rs1267383375
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter) rs1555948969
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs) rs1595790647
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
Single allele

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