ClinVar Miner

List of variants in gene ARSL studied for X-linked chondrodysplasia punctata

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NC_000023.11:g.(?_2934812)_(2958455_?)del
NC_000023.11:g.(?_2934812)_(2960420_?)del
NM_000047.2(ARSL):c.102C>T (p.Ser34=) rs151070930
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000047.2(ARSL):c.119T>G (p.Ile40Ser) rs80338710
NM_000047.2(ARSL):c.1239C>A (p.Asp413Glu) rs142382411
NM_000047.2(ARSL):c.1270G>A (p.Gly424Ser) rs35143646
NM_000047.2(ARSL):c.1442C>T (p.Thr481Met) rs80338713
NM_000047.2(ARSL):c.1475G>A (p.Cys492Tyr) rs122460155
NM_000047.2(ARSL):c.157A>G (p.Ile53Val) rs61733256
NM_000047.2(ARSL):c.1692C>T (p.Asn564=) rs11222
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) rs142375403
NM_000047.2(ARSL):c.1728G>A (p.Pro576=) rs11055
NM_000047.2(ARSL):c.1732C>T (p.Pro578Ser) rs28935474
NM_000047.2(ARSL):c.1743G>A (p.Trp581Ter) rs80338714
NM_000047.2(ARSL):c.332G>C (p.Arg111Pro) rs122460153
NM_000047.2(ARSL):c.337C>T (p.Leu113Phe) rs145946864
NM_000047.2(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000047.2(ARSL):c.36G>C (p.Arg12Ser) rs122460151
NM_000047.2(ARSL):c.410G>C (p.Gly137Ala) rs80338711
NM_000047.2(ARSL):c.410G>T (p.Gly137Val) rs80338711
NM_000047.2(ARSL):c.430+8C>T rs56393981
NM_000047.2(ARSL):c.467G>A (p.Ser156Asn) rs41310272
NM_000047.2(ARSL):c.495T>C (p.His165=) rs35274634
NM_000047.2(ARSL):c.548G>A (p.Arg183His) rs34412194
NM_000047.2(ARSL):c.549C>T (p.Arg183=) rs5982618
NM_000047.2(ARSL):c.733G>C (p.Gly245Arg) rs122460154
NM_000047.2(ARSL):c.752C>T (p.Ala251Val) rs368737099
NM_000047.2(ARSL):c.775C>G (p.His259Asp) rs138149353
NM_000047.2(ARSL):c.786G>A (p.Thr262=) rs17325750
NM_000047.2(ARSL):c.78A>G (p.Ala26=) rs35718384
NM_000047.2(ARSL):c.970G>A (p.Glu324Lys) rs1555909467
NM_000047.3(ARSL):c.1014C>T (p.Asp338=)
NM_000047.3(ARSL):c.1022G>C (p.Gly341Ala)
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val)
NM_000047.3(ARSL):c.103G>A (p.Ala35Thr) rs146065319
NM_000047.3(ARSL):c.113C>T (p.Pro38Leu)
NM_000047.3(ARSL):c.114G>A (p.Pro38=) rs147879083
NM_000047.3(ARSL):c.1158del (p.Ile387fs)
NM_000047.3(ARSL):c.1164C>T (p.Arg388=)
NM_000047.3(ARSL):c.1259G>A (p.Arg420Gln)
NM_000047.3(ARSL):c.1289+9C>T rs375386476
NM_000047.3(ARSL):c.1386C>T (p.His462=) rs183018622
NM_000047.3(ARSL):c.1408G>C (p.Asp470His) rs61743737
NM_000047.3(ARSL):c.1422G>C (p.Met474Ile)
NM_000047.3(ARSL):c.1672C>A (p.Gln558Lys)
NM_000047.3(ARSL):c.217G>A (p.Gly73Ser)
NM_000047.3(ARSL):c.220G>A (p.Val74Met) rs150756612
NM_000047.3(ARSL):c.23+5G>C rs200062390
NM_000047.3(ARSL):c.512A>G (p.Tyr171Cys)
NM_000047.3(ARSL):c.569G>A (p.Arg190His)
NM_000047.3(ARSL):c.684C>G (p.Ile228Met) rs1359359899
NM_000047.3(ARSL):c.694C>G (p.Leu232Val)
NM_000047.3(ARSL):c.714C>T (p.Leu238=) rs34795651
NM_000047.3(ARSL):c.840G>A (p.Ala280=) rs772678789
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739
NM_000047.3(ARSL):c.898G>A (p.Val300Ile) rs752354785

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