ClinVar Miner

List of variants in gene SLC4A1 reported as likely benign for anemia

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.*1103del rs111655803 0.06180
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_000342.4(SLC4A1):c.*794del rs45515496 0.01217
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654 0.00294
NM_000342.4(SLC4A1):c.*1227A>C rs141425539 0.00288
NM_000342.4(SLC4A1):c.-60G>A rs75489266 0.00245
NM_000342.4(SLC4A1):c.*1792G>A rs143785442 0.00184
NM_000342.4(SLC4A1):c.-135G>A rs183529485 0.00173
NM_000342.4(SLC4A1):c.-30C>T rs148028272 0.00167
NM_000342.4(SLC4A1):c.884G>A (p.Arg295His) rs140424071 0.00065
NM_000342.4(SLC4A1):c.2482-7C>T rs371728036 0.00063
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_000342.4(SLC4A1):c.349+15C>G rs541501285 0.00054
NM_000342.4(SLC4A1):c.*1237C>T rs774513767 0.00048
NM_000342.4(SLC4A1):c.297C>T (p.Leu99=) rs146541331 0.00046
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_000342.4(SLC4A1):c.1272C>T (p.Gly424=) rs148115666 0.00035
NM_000342.4(SLC4A1):c.*1933G>A rs565128885 0.00034
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_000342.4(SLC4A1):c.*947C>G rs368389948 0.00029
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000342.4(SLC4A1):c.-136C>T rs566359654 0.00016
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_000342.4(SLC4A1):c.102G>A (p.Pro34=) rs55898602 0.00006
NM_000342.4(SLC4A1):c.1800+17C>T rs370756072 0.00004
NM_000342.4(SLC4A1):c.1311G>A (p.Val437=) rs370089486 0.00003
NM_000342.4(SLC4A1):c.876+8A>G rs750432041 0.00003
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000342.4(SLC4A1):c.92T>C (p.Met31Thr) rs55773290

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