Variants with conflicting interpretations "pathogenic" from Centre for Inherited Metabolic Diseases, Karolinska University Hospital and "uncertain significance" 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:
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Show significances as they were submitted (without aggregation into standard terms)
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Total variants with conflicting interpretations: 14

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HGVS	dbSNP	gnomAD frequency
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)	rs150429680	0.00041
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)	rs80358257	0.00021
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	rs145034527	0.00004
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)	rs753461919	0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)	rs371807951	0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr)	rs141407224	0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met)	rs748571395	0.00001
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)	rs797045332
NM_000277.3(PAH):c.473G>C (p.Arg158Pro)	rs5030843
NM_000282.4(PCCA):c.2040G>A (p.Ala680=)	rs369982920
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala)	rs958073558
NM_001165963.4(SCN1A):c.602+1G>A
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr)	rs1753213218
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157

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