List of variants studied for acidosis disorder by Sydney Genome Diagnostics, Children's Hospital Westmead

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000342.4(SLC4A1):c.2614G>A (p.Val872Ile)	rs747337202	0.00001
NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter)	rs1288346981	0.00001
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	rs121912745
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)	rs878853002
NM_000342.4(SLC4A1):c.2385G>A (p.Met795Ile)	rs2047339489
NM_001692.4(ATP6V1B1):c.1181G>A (p.Arg394Gln)	rs1680670309

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