ClinVar Miner

List of variants reported as benign for Hemochromatosis type 4

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_014585.6(SLC40A1):c.44-24G>C rs1439816 0.69640
NM_014585.6(SLC40A1):c.663T>C (p.Val221=) rs2304704 0.51099
NM_014585.6(SLC40A1):c.-8C>G rs11568351 0.15769
NM_014585.6(SLC40A1):c.-98G>C rs13008848 0.15732
NM_014585.6(SLC40A1):c.*1130A>G rs11539983 0.08823
NM_014585.6(SLC40A1):c.387C>T (p.Leu129=) rs11568344 0.03499
NM_014585.6(SLC40A1):c.744G>T (p.Gln248His) rs11568350 0.01596
NM_014585.6(SLC40A1):c.*289G>T rs61525883 0.01415
NM_014585.6(SLC40A1):c.-23A>G rs114904726 0.00713
NM_014585.6(SLC40A1):c.1681A>G (p.Arg561Gly) rs11568346 0.00497
NM_014585.6(SLC40A1):c.1294A>G (p.Met432Val) rs11568355 0.00245
NM_014585.6(SLC40A1):c.*1123C>T rs145534461 0.00184
NM_014585.6(SLC40A1):c.1328C>T (p.Pro443Leu) rs45606432 0.00163
NM_014585.6(SLC40A1):c.*50G>A rs201805867 0.00069
NM_014585.6(SLC40A1):c.*833T>C rs917191527 0.00041
NM_014585.6(SLC40A1):c.760+14A>G rs145600408 0.00026
NM_014585.6(SLC40A1):c.1252A>G (p.Ile418Val) rs199629095 0.00023
NM_014585.6(SLC40A1):c.1132T>C (p.Leu378=) rs138505684 0.00022
NM_014585.6(SLC40A1):c.1570G>A (p.Val524Ile) rs142456282 0.00015
NM_014585.6(SLC40A1):c.192C>T (p.Tyr64=) rs763244873 0.00008
NM_014585.6(SLC40A1):c.1654G>A (p.Ala552Thr) rs182470100 0.00007
NM_014585.6(SLC40A1):c.388-38C>T rs761836686 0.00002
NM_014585.6(SLC40A1):c.585T>C (p.Ile195=) rs770535211 0.00002
NM_014585.6(SLC40A1):c.646A>G (p.Met216Val) rs757531583 0.00002
NM_014585.6(SLC40A1):c.1203C>T (p.Ser401=) rs200345331 0.00001
NM_014585.6(SLC40A1):c.388-14T>A rs569873762 0.00001
NM_014585.6(SLC40A1):c.1403-14dup
NM_014585.6(SLC40A1):c.1569C>T (p.Leu523=) rs770129909
NM_014585.6(SLC40A1):c.327C>T (p.Ile109=) rs11568345
NM_014585.6(SLC40A1):c.387+20C>T
NM_014585.6(SLC40A1):c.388-16dup

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