ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from CeGaT Center for Human Genetics Tuebingen and "uncertain significance" from any submitter

Minimum review status of the submission from CeGaT Center for Human Genetics Tuebingen: Collection method of the submission from CeGaT Center for Human Genetics Tuebingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) rs80359128 0.00002
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154

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