ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology and "uncertain significance" from any submitter

Minimum review status of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology: Collection method of the submission from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys) rs139194636 0.00024
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu) rs878853165
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903

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