ClinVar Miner

List of variants in gene ARSL reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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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.987G>A (p.Met329Ile) rs199757831 0.00012
NM_000047.3(ARSL):c.149T>C (p.Ile50Thr) rs774620797 0.00011
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000047.3(ARSL):c.593A>G (p.Asn198Ser) rs780625663 0.00008
NM_000047.3(ARSL):c.1163G>A (p.Arg388His) rs754500316 0.00006
NM_000047.3(ARSL):c.1550C>T (p.Ser517Leu) rs747699123 0.00004
NM_000047.3(ARSL):c.1597G>A (p.Val533Met) rs376111412 0.00004
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.752C>T (p.Ala251Val) rs368737099 0.00004
NM_000047.3(ARSL):c.994C>T (p.Arg332Trp) rs139875495 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.280C>T (p.Leu94Phe) rs141210068 0.00003
NM_000047.3(ARSL):c.1066G>A (p.Gly356Ser) rs372625507 0.00002
NM_000047.3(ARSL):c.58G>A (p.Ala20Thr) rs372935423 0.00002
NM_000047.3(ARSL):c.995G>A (p.Arg332Gln) rs762087807 0.00002
NM_000047.3(ARSL):c.113C>T (p.Pro38Leu) rs756547783 0.00001
NM_000047.3(ARSL):c.1525G>A (p.Asp509Asn) rs772908873 0.00001
NM_000047.3(ARSL):c.728T>C (p.Phe243Ser) rs779527848 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_000023.10:g.(?_2852873)_(2856318_?)dup
NM_000047.3(ARSL):c.1015G>A (p.Val339Met) rs759305139
NM_000047.3(ARSL):c.1022G>C (p.Gly341Ala) rs2089304436
NM_000047.3(ARSL):c.1022G>T (p.Gly341Val) rs2089304436
NM_000047.3(ARSL):c.1077G>C (p.Glu359Asp)
NM_000047.3(ARSL):c.1171G>A (p.Gly391Arg)
NM_000047.3(ARSL):c.1204G>A (p.Gly402Ser)
NM_000047.3(ARSL):c.1219G>A (p.Glu407Lys)
NM_000047.3(ARSL):c.1239C>A (p.Asp413Glu) rs142382411
NM_000047.3(ARSL):c.1252G>A (p.Val418Met)
NM_000047.3(ARSL):c.1258C>T (p.Arg420Trp)
NM_000047.3(ARSL):c.1265C>T (p.Ala422Val)
NM_000047.3(ARSL):c.1276G>T (p.Val426Leu)
NM_000047.3(ARSL):c.133G>A (p.Ala45Thr)
NM_000047.3(ARSL):c.134C>T (p.Ala45Val)
NM_000047.3(ARSL):c.139G>A (p.Asp47Asn)
NM_000047.3(ARSL):c.1422G>C (p.Met474Ile) rs2089180172
NM_000047.3(ARSL):c.1461G>C (p.Glu487Asp)
NM_000047.3(ARSL):c.1468G>A (p.Gly490Ser)
NM_000047.3(ARSL):c.1496C>T (p.Pro499Leu)
NM_000047.3(ARSL):c.1633G>A (p.Val545Met)
NM_000047.3(ARSL):c.1643A>T (p.His548Leu) rs2147342476
NM_000047.3(ARSL):c.1672C>A (p.Gln558Lys) rs2089175161
NM_000047.3(ARSL):c.1759G>A (p.Asp587Asn) rs753500701
NM_000047.3(ARSL):c.176A>G (p.Asn59Ser)
NM_000047.3(ARSL):c.356C>A (p.Ser119Tyr) rs2147389372
NM_000047.3(ARSL):c.402A>C (p.Lys134Asn) rs2147389286
NM_000047.3(ARSL):c.569G>A (p.Arg190His) rs1603462104
NM_000047.3(ARSL):c.677C>T (p.Pro226Leu)
NM_000047.3(ARSL):c.684C>G (p.Ile228Met) rs1359359899
NM_000047.3(ARSL):c.694C>G (p.Leu232Val) rs1357207608
NM_000047.3(ARSL):c.777C>G (p.His259Gln)
NM_000047.3(ARSL):c.854+13G>A
NM_000047.3(ARSL):c.910_918del (p.Leu304_Thr306del)
NM_000047.3(ARSL):c.934G>A (p.Gly312Arg) rs773935389
NM_000047.3(ARSL):c.934G>C (p.Gly312Arg)
NM_000047.3(ARSL):c.970G>A (p.Glu324Lys) rs1555909467
NM_000047.3(ARSL):c.988G>A (p.Val330Ile)

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