ClinVar Miner

List of variants in gene ARSL studied for X-linked disease

Included ClinVar conditions (275):
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Gene type:
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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) rs35143646 0.50841
NM_000047.3(ARSL):c.1692C>T (p.Asn564=) rs11222 0.47884
NM_000047.3(ARSL):c.78A>G (p.Ala26=) rs35718384 0.07015
NM_000047.3(ARSL):c.549C>T (p.Arg183=) rs5982618 0.03335
NM_000047.3(ARSL):c.157A>G (p.Ile53Val) rs61733256 0.02854
NM_000047.3(ARSL):c.23+687G>A rs61733257 0.02344
NM_000047.3(ARSL):c.24-26C>T rs2302079 0.01922
NM_000047.3(ARSL):c.548G>A (p.Arg183His) rs34412194 0.01378
NM_000047.3(ARSL):c.495T>C (p.His165=) rs35274634 0.01303
NM_000047.3(ARSL):c.430+8C>T rs56393981 0.00462
NM_000047.3(ARSL):c.1694T>G (p.Ile565Ser) rs142375403 0.00129
NM_000047.3(ARSL):c.775C>G (p.His259Asp) rs138149353 0.00052
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg) rs201424543 0.00049
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739 0.00043
NM_000047.3(ARSL):c.467G>A (p.Ser156Asn) rs41310272 0.00021
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
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.23G>C (p.Cys8Ser) rs1057521599 0.00003
NM_000047.3(ARSL):c.119T>G (p.Ile40Ser) rs80338710 0.00001
NM_000047.3(ARSL):c.1442C>T (p.Thr481Met) rs80338713 0.00001
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser) rs28935474 0.00001
NM_000047.3(ARSL):c.24-1G>A rs762627146 0.00001
NM_000047.3(ARSL):c.337C>T (p.Leu113Phe) rs145946864 0.00001
NM_000047.3(ARSL):c.898G>A (p.Val300Ile) rs752354785 0.00001
NM_000047.3(ARSL):c.949G>A (p.Gly317Arg) rs1178912922 0.00001
NC_000023.11:g.(?_2934812)_(2958455_?)del
NC_000023.11:g.(?_2934812)_(2960420_?)del
NM_000047.3(ARSL):c.-14GA[3] rs200332753
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val) rs2089304436
NM_000047.3(ARSL):c.1127-141GA[10] rs34095951
NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter) rs1272438892
NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu) rs142382411
NM_000047.3(ARSL):c.1265C>T (p.Ala422Val)
NM_000047.3(ARSL):c.1289+1G>A rs2147349066
NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr) rs122460155
NM_000047.3(ARSL):c.217G>A (p.Gly73Ser) rs2147394157
NM_000047.3(ARSL):c.332G>C (p.Arg111Pro) rs122460153
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000047.3(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000047.3(ARSL):c.430G>A (p.Gly144Arg)
NM_000047.3(ARSL):c.684C>G (p.Ile228Met) rs1359359899
NM_000047.3(ARSL):c.733G>C (p.Gly245Arg) rs122460154
NM_000047.3(ARSL):c.910_918del (p.Leu304_Thr306del)
NM_000047.3(ARSL):c.916A>G (p.Thr306Ala)
NM_000047.3(ARSL):c.991+2T>C
NM_000047.3(ARSL):c.992-219C>G rs211643

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