ClinVar Miner

List of variants studied for autosomal recessive spondylocostal dysostosis by Natera, Inc.

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_001039958.2(MESP2):c.412G>A (p.Val138Met) rs28462216 0.06491
NM_001039958.2(MESP2):c.558G>A (p.Gln186=) rs28546919 0.05106
NM_001039958.2(MESP2):c.531G>A (p.Ala177=) rs75049807 0.04869
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe) rs71647807 0.02596
NM_001039958.2(MESP2):c.717G>C (p.Gly239=) rs181559095 0.00329
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro) rs185706635 0.00162
NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser) rs548112443 0.00101
NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser) rs201904631 0.00069
NM_001039958.2(MESP2):c.793A>G (p.Thr265Ala) rs201002566 0.00061
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514 0.00041
NM_001039958.2(MESP2):c.357G>C (p.Leu119=) rs575410954 0.00026
NM_001039958.2(MESP2):c.1017C>T (p.Pro339=) rs370227491 0.00022
NM_001039958.2(MESP2):c.355C>T (p.Leu119=) rs373605220 0.00020
NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu) rs377023417 0.00018
NM_001039958.2(MESP2):c.183C>T (p.Ser61=) rs753168674 0.00016
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001039958.2(MESP2):c.408G>T (p.Ser136=) rs760746152 0.00011
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) rs894593728 0.00009
NM_001039958.2(MESP2):c.18T>A (p.Pro6=) rs529998749 0.00008
NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu) rs771745973 0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001039958.2(MESP2):c.207G>T (p.Thr69=) rs571669966 0.00003
NM_001039958.2(MESP2):c.170C>G (p.Pro57Arg) rs1257896833 0.00002
NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr) rs1319032121 0.00001
NM_001039958.2(MESP2):c.669G>C (p.Pro223=) rs760409825 0.00001
NM_001039958.2(MESP2):c.1122C>A (p.Gly374=) rs765218369
NM_001039958.2(MESP2):c.189C>G (p.Ala63=) rs534821207
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly) rs71647809
NM_001039958.2(MESP2):c.237G>C (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.237G>T (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.245A>G (p.Gln82Arg) rs1968366047
NM_001039958.2(MESP2):c.248G>C (p.Arg83Pro) rs986299993
NM_001039958.2(MESP2):c.255C>G (p.Ser85Arg) rs1377497655
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) rs1452984345
NM_001039958.2(MESP2):c.278G>C (p.Arg93Pro) rs1968366878
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) rs71647808
NM_001039958.2(MESP2):c.320T>C (p.Phe107Ser) rs1968368157
NM_001039958.2(MESP2):c.378C>G (p.Arg126=) rs748816022
NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala) rs1968372166
NM_001039958.2(MESP2):c.498C>A (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9]) rs200021459
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7]) rs749710849
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001039958.2(MESP2):c.637G>A (p.Ala213Thr) rs781296717
NM_001039958.2(MESP2):c.693C>T (p.Ala231=) rs901621478
NM_001039958.2(MESP2):c.966T>G (p.Ala322=) rs768285654

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