Variants with conflicting interpretations "likely pathogenic" from Centre for Inherited Metabolic Diseases, Karolinska University Hospital and "pathogenic" from any submitter

Minimum review status of the submission from Centre for Inherited Metabolic Diseases, Karolinska University Hospital:		Collection method of the submission from Centre for Inherited Metabolic Diseases, Karolinska University Hospital:
Minimum review status of the other submission:		Collection method of the other submission:
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_206933.4(USH2A):c.15017C>T (p.Thr5006Met)	rs757676723	0.00002
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile)	rs766294940	0.00001
NM_013339.4(ALG6):c.250G>A (p.Ala84Thr)	rs762643273	0.00001
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)	rs745777805
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)	rs387906824
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)	rs1553547448
NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser)	rs2100677960
NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)
NM_013328.4(PYCR2):c.773T>C (p.Val258Ala)	rs886037932
NM_015937.6(PIGT):c.547A>C (p.Thr183Pro)	rs587777027
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro)	rs863225304
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp)	rs863225305

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