List of variants in gene combination CTXN2, SLC12A1 reported as uncertain significance by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000338.3(SLC12A1):c.386C>T (p.Pro129Leu)	rs387907468	0.00001
NM_000338.3(SLC12A1):c.13A>G (p.Asn5Asp)	rs387907466
NM_000338.3(SLC12A1):c.503A>G (p.Glu168Gly)	rs387907467
NM_000338.3(SLC12A1):c.510T>A (p.Asp170Glu)	rs387907465

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