ClinVar Miner

Variants with conflicting interpretations "likely benign" from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center: Collection method of the submission from Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 29
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
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_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
Single allele rs200202883

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