List of variants in gene SLC4A1 reported as likely benign for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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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