ClinVar Miner

List of variants reported as uncertain significance for Myoglobinuria, acute recurrent, autosomal recessive by Fulgent Genetics, Fulgent Genetics

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001349206.2(LPIN1):c.1893G>T (p.Lys631Asn) rs145608684 0.00026
NM_001349206.2(LPIN1):c.73G>A (p.Ala25Thr) rs150673063 0.00013
NM_001349206.2(LPIN1):c.1271G>A (p.Arg424Gln) rs115521500 0.00010
NM_001349206.2(LPIN1):c.2414A>G (p.Glu805Gly) rs771205777 0.00008
NM_001349206.2(LPIN1):c.1982A>G (p.Lys661Arg) rs768074360 0.00007
NM_001349206.2(LPIN1):c.1651A>T (p.Asn551Tyr) rs751535374 0.00006
NM_001349206.2(LPIN1):c.2342C>T (p.Thr781Met) rs149307854 0.00006
NM_001349206.2(LPIN1):c.1862C>T (p.Pro621Leu) rs144102076 0.00005
NM_001349206.2(LPIN1):c.1110C>A (p.Asn370Lys) rs774861372 0.00004
NM_001349206.2(LPIN1):c.1475A>G (p.Asp492Gly) rs190743128 0.00004
NM_001349206.2(LPIN1):c.723-2A>C rs368632476 0.00004
NM_001349206.2(LPIN1):c.2777C>T (p.Ala926Val) rs143650210 0.00003
NM_001349206.2(LPIN1):c.541A>G (p.Met181Val) rs200284114 0.00003
NM_001349206.2(LPIN1):c.616C>G (p.Pro206Ala) rs370440936 0.00003
NM_001349206.2(LPIN1):c.1208C>G (p.Pro403Arg) rs185471985 0.00002
NM_001349206.2(LPIN1):c.1121C>T (p.Thr374Ile) rs141438400 0.00001
NM_001349206.2(LPIN1):c.1979A>G (p.Tyr660Cys) rs780262395 0.00001
NM_001349206.2(LPIN1):c.245A>G (p.Asp82Gly) rs987368907 0.00001
NM_001349206.2(LPIN1):c.2621C>T (p.Ser874Leu) rs780273443 0.00001
NM_001349206.2(LPIN1):c.110G>A (p.Arg37His) rs774490262
NM_001349206.2(LPIN1):c.1542C>G (p.Ile514Met) rs1340968307
NM_001349206.2(LPIN1):c.2066C>T (p.Thr689Met) rs1364674031
NM_001349206.2(LPIN1):c.928C>G (p.Leu310Val) rs757007907

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