ClinVar Miner

List of variants reported as pathogenic for lethal multiple pterygium syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg) rs768407867 0.00004
NM_005199.5(CHRNG):c.397del (p.Ser133fs) rs780249576 0.00004
NM_000079.4(CHRNA1):c.935C>A (p.Thr312Asn) rs746404398 0.00003
NM_000751.3(CHRND):c.730C>T (p.Arg244Cys) rs376642208 0.00003
NM_000751.3(CHRND):c.1390C>T (p.Arg464Ter) rs121909507 0.00002
NM_000079.4(CHRNA1):c.175C>T (p.Gln59Ter) rs750329103 0.00001
NM_000079.4(CHRNA1):c.997C>T (p.Arg333Trp) rs374391312 0.00001
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter) rs121909505 0.00001
NM_000751.3(CHRND):c.283T>C (p.Phe95Leu) rs121909506 0.00001
NM_000751.3(CHRND):c.769T>C (p.Cys257Arg) rs776218605 0.00001
NM_005199.5(CHRNG):c.136C>T (p.Arg46Ter) rs121912672 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.428C>G (p.Pro143Arg) rs765746795 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NC_000002.11:g.(?_175612832)_(175619162_?)del
NC_000002.11:g.(?_175612852)_(175619162_?)del
NC_000002.11:g.(?_175612852)_(175629122_?)del
NC_000002.11:g.(?_233390926)_(233400022_?)del
NC_000002.12:g.(?_174747592)_(174754414_?)del
NM_000079.4(CHRNA1):c.1079del (p.Lys360fs) rs768863116
NM_000079.4(CHRNA1):c.1079dup (p.Ile361fs)
NM_000079.4(CHRNA1):c.117_133dup (p.His45fs)
NM_000079.4(CHRNA1):c.222del (p.Arg75fs)
NM_000079.4(CHRNA1):c.249C>A (p.Tyr83Ter) rs1684009556
NM_000079.4(CHRNA1):c.292dup (p.Ile98fs) rs753250273
NM_000079.4(CHRNA1):c.345-63_403del
NM_000079.4(CHRNA1):c.370A>T (p.Lys124Ter) rs1683929269
NM_000079.4(CHRNA1):c.517G>A (p.Gly173Ser) rs137852801
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs) rs1064793397
NM_000079.4(CHRNA1):c.686G>T (p.Arg229Leu) rs137852809
NM_000079.4(CHRNA1):c.711C>A (p.Asn237Lys) rs137852798
NM_000079.4(CHRNA1):c.844G>T (p.Glu282Ter) rs1208011631
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
NM_000751.3(CHRND):c.211del (p.Glu71fs)
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter) rs2106208285
NM_000751.3(CHRND):c.249del (p.Gly82_Trp83insTer)
NM_000751.3(CHRND):c.2T>C (p.Met1Thr) rs750174953
NM_000751.3(CHRND):c.316dup (p.Asp106fs)
NM_000751.3(CHRND):c.36del (p.Ala13fs)
NM_000751.3(CHRND):c.389A>T (p.Asn130Ile) rs1553574327
NM_000751.3(CHRND):c.521_524dup (p.Ala176fs) rs1574630951
NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)
NM_000751.3(CHRND):c.628G>T (p.Glu210Ter)
NM_000751.3(CHRND):c.677_766delinsGGGT (p.Ala226fs)
NM_000751.3(CHRND):c.820_820+1del rs879255564
NM_000751.3(CHRND):c.88del (p.Arg30fs) rs1266948051
NM_005199.5(CHRNG):c.1210C>T (p.Gln404Ter) rs1553578312
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722
NM_005199.5(CHRNG):c.240+1del rs777809198
NM_005199.5(CHRNG):c.320T>G (p.Val107Gly) rs267606726

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