ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genome Diagnostics Laboratory, University Medical Center Utrecht and "likely pathogenic" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht: Collection method of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala) rs1244840759
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) rs137853322

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