ClinVar Miner

Variants with conflicting interpretations "benign" from GeneDx and "likely pathogenic" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 44
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HGVS dbSNP gnomAD frequency
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_001261428.3(LPIN1):c.113G>A (p.Arg38Gln) rs4614906 0.17664
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896 0.01123
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729 0.00047
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_000153.4(GALC):c.1162-4del rs11300320
NM_001079843.3(CASZ1):c.5127CGA[2] (p.Asp1711_Asp1712del) rs201089181
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
Single allele rs1556502214

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