ClinVar Miner

List of variants in gene SLC7A7 reported by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.895-2A>T rs146582474 0.00035
NM_003982.4(SLC7A7):c.625+1G>A rs386833822 0.00004
NM_003982.4(SLC7A7):c.1001T>G (p.Leu334Arg) rs72552272 0.00002
NM_003982.4(SLC7A7):c.161G>T (p.Gly54Val) rs121908677 0.00001
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter) rs121908679 0.00001
NG_012851.2:g.(19502_21380)_(21922_54769)del
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter) rs121908678
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805

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