ClinVar Miner

List of variants studied for X-linked chondrodysplasia punctata

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 45
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HGVS dbSNP
NC_000023.10:g.(?_2852853)_(2878461_?)del
NC_000023.11:g.2946091C>T
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)
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.1694T>G (p.Ile565Ser) rs142375403
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.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.78A>G (p.Ala26=) rs35718384
NM_000047.2(ARSL):c.970G>A (p.Glu324Lys) rs1555909467
NM_000047.3(ARSL):c.684C>G (p.Ile228Met)
NM_000047.3(ARSL):c.897C>T (p.His299=)
NM_001282628.1(ARSL):c.-225_-224GA[3] rs200332753
NM_015922.3(NSDHL):c.*129C>T
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs) rs797045835
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys) rs137853863
NM_015922.3(NSDHL):c.1114del (p.Val372fs) rs587784222
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)
NM_015922.3(NSDHL):c.370G>A (p.Gly124Ser) rs137853862
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.595C>T (p.Arg199Cys) rs587784223
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter) rs141571609
NM_015922.3(NSDHL):c.904del (p.Tyr302fs) rs587784225
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter) rs587784226

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