ClinVar Miner

List of variants in gene SLC4A1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met) rs28931584
NM_000342.4(SLC4A1):c.1765C>A (p.Arg589Ser) rs121912745
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) rs121912754
NM_000342.4(SLC4A1):c.1838C>T (p.Ser613Phe) rs121912746
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp) rs121912748
NM_000342.4(SLC4A1):c.2545_2547GTG[1] (p.Val850del) rs121912752
SLC4A1, 13-BP INS, 9-BP DEL

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