Variants with conflicting interpretations "pathogenic" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "uncertain significance" from Mayo Clinic Laboratories, Mayo Clinic

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:		Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 12

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)	rs1800110	0.00106
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000132.4(F8):c.1018G>A (p.Glu340Lys)	rs781954986	0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)	rs183105855	0.00019
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)	rs121909021	0.00015
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)	rs1490417405	0.00001
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His)	rs113857788

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