ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine: Collection method of the submission from Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine:
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_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000527.4(LDLR):c.-152C>T
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn) rs754933794
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp) rs1329988533
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg) rs1388837601
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227

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