Variants with conflicting interpretations "likely pathogenic" from UCLA Clinical Genomics Center, UCLA and "pathogenic" from OMIM

Minimum review status of the submission from UCLA Clinical Genomics Center, UCLA:		Collection method of the submission from UCLA Clinical Genomics Center, UCLA:
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Show significances as they were submitted (without aggregation into standard terms)
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Total variants with conflicting interpretations: 16

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HGVS	dbSNP	gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	rs121912707	0.00024
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)	rs28933673	0.00014
NM_003201.3(TFAM):c.533C>T (p.Pro178Leu)	rs757075712	0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	rs267607048	0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg)	rs121912631	0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)	rs104894060	0.00001
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	rs794727152
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)	rs387906684
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)	rs398122822
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys)	rs199473690
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)	rs111033578
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	rs587776932
NM_022915.5(MRPL44):c.467T>G (p.Leu156Arg)	rs143697995

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