List of variants studied for X-linked chondrodysplasia punctata 1 by Invitae

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		ClinVar version:

Total variants: 20

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HGVS	dbSNP
NC_000023.11:g.(?_2934812)_(2958455_?)del	rs0
NC_000023.11:g.(?_2934812)_(2960420_?)del	rs0
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg)	rs201424543
NM_000047.2(ARSL):c.1239C>A (p.Asp413Glu)	rs142382411
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_000047.2(ARSL):c.970G>A (p.Glu324Lys)	rs1555909467
NM_000047.3(ARSL):c.1158del (p.Ile387fs)	rs0
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.512A>G (p.Tyr171Cys)	rs0
NM_000047.3(ARSL):c.714C>T (p.Leu238=)	rs34795651
NM_000047.3(ARSL):c.840G>A (p.Ala280=)	rs772678789

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