ClinVar Miner

List of variants in gene ASL reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
NM_000048.4(ASL):c.309G>A (p.Thr103=) rs142448820 0.00129
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_000048.4(ASL):c.1029C>T (p.Leu343=) rs140532520 0.00083
NM_000048.4(ASL):c.330A>G (p.Gly110=) rs147464765 0.00007
NM_000048.4(ASL):c.544C>T (p.Arg182Ter) rs398123126 0.00005
NM_000048.4(ASL):c.90C>T (p.Tyr30=) rs751062108 0.00005
NM_000048.4(ASL):c.525-26A>C rs1029804533 0.00001
GRCh37/hg19 7q11.21(chr7:65546790-65548161)x0
NM_000048.4(ASL):c.1133T>G (p.Val378Gly) rs758058521
NM_000048.4(ASL):c.208-6C>G
NM_000048.4(ASL):c.470G>T (p.Gly157Val) rs562503544
NM_000048.4(ASL):c.893G>T (p.Ser298Ile) rs1786763426

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