List of variants in gene ARSL reported as uncertain significance for X-linked chondrodysplasia punctata

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser)	rs142375403	0.00129
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)	rs122460151	0.00004
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)	rs368359145	0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NM_000047.3(ARSL):c.898G>A (p.Val300Ile)	rs752354785	0.00001
NM_000047.3(ARSL):c.949G>A (p.Gly317Arg)	rs1178912922	0.00001
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val)	rs2089304436
NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu)	rs142382411
NM_000047.3(ARSL):c.1265C>T (p.Ala422Val)
NM_000047.3(ARSL):c.684C>G (p.Ile228Met)	rs1359359899
NM_000047.3(ARSL):c.910_918del (p.Leu304_Thr306del)

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