ClinVar Miner

List of variants reported as benign for X-linked chondrodysplasia punctata 1 by Invitae

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Total variants: 14
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NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000047.2(ARSL):c.157A>G (p.Ile53Val) rs61733256
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) rs142375403
NM_000047.2(ARSL):c.430+8C>T rs56393981
NM_000047.2(ARSL):c.548G>A (p.Arg183His) rs34412194
NM_000047.2(ARSL):c.775C>G (p.His259Asp) rs138149353
NM_000047.2(ARSL):c.78A>G (p.Ala26=) rs35718384
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.220G>A (p.Val74Met) rs150756612
NM_000047.3(ARSL):c.23+5G>C rs200062390
NM_000047.3(ARSL):c.714C>T (p.Leu238=) rs34795651
NM_000047.3(ARSL):c.840G>A (p.Ala280=) rs772678789

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