List of variants reported as uncertain significance for disorder of metabolite absorption and transport by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001081.4(CUBN):c.6125-2A>G	rs75386064	0.00226
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=)	rs75737363	0.00192
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)	rs117620008	0.00133
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)	rs150202444	0.00021
NM_001081.4(CUBN):c.9922T>C (p.Trp3308Arg)	rs752843169	0.00014
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)	rs370778353	0.00009
NM_001081.4(CUBN):c.4964C>G (p.Pro1655Arg)	rs532968940	0.00005
NM_000701.8(ATP1A1):c.1866C>G (p.Ile622Met)	rs1652955697
NM_001081.4(CUBN):c.349C>A (p.Leu117Met)	rs1588661287
NM_001081.4(CUBN):c.3929T>C (p.Ile1310Thr)	rs1588604587
NM_001081.4(CUBN):c.489+2_489+4dup	rs1588658746
NM_001081.4(CUBN):c.7797C>G (p.Cys2599Trp)	rs138758085

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