ClinVar Miner

Variants in gene SLC4A1 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000342.3(SLC4A1):c.-62G>A rs387906565 0.00002
NM_000342.4(SLC4A1):c.1936C>T (p.Arg646Trp) rs121912758 0.00001
NM_000342.4(SLC4A1):c.1626G>A (p.Lys542=) rs2144611947
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751

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