ClinVar Miner

List of variants in gene ARSL studied for Inborn genetic diseases

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.715G>A (p.Ala239Thr) rs144630754 0.00023
NM_000047.3(ARSL):c.664G>A (p.Val222Ile) rs150444751 0.00008
NM_000047.3(ARSL):c.1043T>C (p.Ile348Thr)
NM_000047.3(ARSL):c.1117A>G (p.Ile373Val)
NM_000047.3(ARSL):c.1418C>A (p.Thr473Lys)
NM_000047.3(ARSL):c.1456C>T (p.Pro486Ser)
NM_000047.3(ARSL):c.1471G>A (p.Ala491Thr) rs1555908040
NM_000047.3(ARSL):c.698C>T (p.Ser233Leu)
NM_000047.3(ARSL):c.785C>T (p.Thr262Met)
NM_000047.3(ARSL):c.958G>A (p.Gly320Arg) rs1555909481
NM_000047.3(ARSL):c.967G>A (p.Val323Ile)

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