List of variants in gene SLC12A3 reported by Sydney Genome Diagnostics, Children's Hospital Westmead

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)	rs138977195	0.00041
NM_001126108.2(SLC12A3):c.2856+1G>T	rs199974259	0.00024
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)	rs140012781	0.00014
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)	rs121909380	0.00011
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	rs759377924	0.00009
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp)	rs559626481	0.00006
NM_001126108.2(SLC12A3):c.506-1G>A	rs201555148	0.00001
NM_000339.2:c.(2951+1_2952-1)_(*1_?)del
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)	rs776210036
NM_001126108.2(SLC12A3):c.1378G>A (p.Gly460Ser)	rs2055210264
NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys)	rs777612082
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly)	rs1451284628
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)	rs750710315
NM_001126108.2(SLC12A3):c.2207A>T (p.Asn736Ile)	rs1424832490
NM_001126108.2(SLC12A3):c.427A>G (p.Met143Val)	rs1964378547

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