ClinVar Miner

List of variants reported as benign for Lysinuric protein intolerance

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_003982.4(SLC7A7):c.1527A>G (p.Lys509=) rs1061040 0.77937
NM_003982.4(SLC7A7):c.159G>A (p.Ser53=) rs1805059 0.57983
NM_003982.4(SLC7A7):c.-86T>C rs2281677 0.55817
NM_003982.4(SLC7A7):c.498T>C (p.Ile166=) rs8018462 0.53238
NM_003982.4(SLC7A7):c.500-32T>C rs11568429 0.20244
NM_003982.4(SLC7A7):c.660T>C (p.Gly220=) rs1805061 0.18661
NM_003982.4(SLC7A7):c.1430-55T>C rs11568422 0.16163
NM_001126106.4(SLC7A7):c.-263G>C rs17122772 0.15819
NM_001126106.4(SLC7A7):c.-281T>C rs17122776 0.15729
NM_003982.4(SLC7A7):c.1095+111A>G rs12891079 0.12518
NM_003982.4(SLC7A7):c.456C>T (p.Phe152=) rs8016634 0.03113
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_003982.4(SLC7A7):c.96G>A (p.Lys32=) rs45479698 0.00958
NM_001126106.4(SLC7A7):c.-264C>T rs8015849 0.00586
NM_003982.4(SLC7A7):c.1119G>A (p.Leu373=) rs1805062 0.00578
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_003982.4(SLC7A7):c.500-20C>G rs375933584 0.00049
NM_003982.4(SLC7A7):c.1246-24_1246-20del rs755372416 0.00012
NM_003982.4(SLC7A7):c.1246-12C>T rs573454071 0.00004
NM_003982.4(SLC7A7):c.895-20C>T rs376455152 0.00002
NM_003982.4(SLC7A7):c.1245+10C>T rs531427504
NM_003982.4(SLC7A7):c.771-18del

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