ClinVar Miner

List of variants reported as uncertain significance for acidosis disorder by Sydney Genome Diagnostics, Children's Hospital Westmead

Included ClinVar conditions (4):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile)	rs747337202	0.00001
NM_000342.4(SLC4A1):c.2385G>A (p.Met795Ile)	rs2047339489
NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln)	rs1680670309

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