ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as uncertain significance for muscular dystrophy-dystroglycanopathy, type A

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His) rs544816408 0.00015
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017739.4(POMGNT1):c.1979C>T (p.Thr660Ile) rs377760450 0.00011
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_017739.4(POMGNT1):c.1285-6C>T rs377292905 0.00009
NM_017739.4(POMGNT1):c.1825C>T (p.Arg609Trp) rs145736350 0.00009
NM_017739.4(POMGNT1):c.1539C>T (p.His513=) rs569297597 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe) rs772102300 0.00006
NM_017739.4(POMGNT1):c.1099C>T (p.Arg367Cys) rs36038536 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=) rs775495503 0.00004
NM_017739.4(POMGNT1):c.1855A>T (p.Asn619Tyr) rs374401585 0.00004
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_017739.4(POMGNT1):c.492C>T (p.Leu164=) rs562534688 0.00004
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn) rs143736961 0.00004
NM_017739.4(POMGNT1):c.*531C>T rs769094628 0.00003
NM_017739.4(POMGNT1):c.1697T>C (p.Phe566Ser) rs765906814 0.00003
NM_017739.4(POMGNT1):c.1933G>C (p.Glu645Gln) rs778115320 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_017739.4(POMGNT1):c.565G>T (p.Ala189Ser) rs949714416 0.00003
NM_017739.4(POMGNT1):c.788G>A (p.Arg263His) rs146078296 0.00003
NM_017739.4(POMGNT1):c.888C>A (p.Asp296Glu) rs369970994 0.00003
NM_017739.4(POMGNT1):c.*500G>A rs764840485 0.00002
NM_017739.4(POMGNT1):c.1142A>G (p.Asn381Ser) rs140846775 0.00002
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416 0.00002
NM_017739.4(POMGNT1):c.1783A>G (p.Lys595Glu) rs797045896 0.00002
NM_017739.4(POMGNT1):c.427G>A (p.Val143Met) rs755885722 0.00002
NM_017739.4(POMGNT1):c.584G>A (p.Ser195Asn) rs917194053 0.00002
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp) rs1188660252 0.00002
NM_017739.4(POMGNT1):c.753G>T (p.Glu251Asp) rs751316371 0.00002
NM_017739.4(POMGNT1):c.*30_*33del rs1553162554 0.00001
NM_017739.4(POMGNT1):c.*404_*405dup rs940315351 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met) rs1332597566 0.00001
NM_017739.4(POMGNT1):c.1110+9T>C rs1553163359 0.00001
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu) rs375845761 0.00001
NM_017739.4(POMGNT1):c.1152G>A (p.Pro384=) rs760312462 0.00001
NM_017739.4(POMGNT1):c.1157C>T (p.Ala386Val) rs778179887 0.00001
NM_017739.4(POMGNT1):c.1198G>C (p.Val400Leu) rs749863346 0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser) rs760705290 0.00001
NM_017739.4(POMGNT1):c.1561A>G (p.Lys521Glu) rs764394085 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017739.4(POMGNT1):c.1669C>A (p.His557Asn) rs761426941 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser) rs749960797 0.00001
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro) rs377170894 0.00001
NM_017739.4(POMGNT1):c.1880C>T (p.Pro627Leu) rs200143169 0.00001
NM_017739.4(POMGNT1):c.1910C>T (p.Pro637Leu) rs1467007123 0.00001
NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=) rs747815387 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017739.4(POMGNT1):c.386G>A (p.Arg129Gln) rs770188918 0.00001
NM_017739.4(POMGNT1):c.439C>T (p.Arg147Cys) rs780641373 0.00001
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala) rs868433749 0.00001
NM_017739.4(POMGNT1):c.652+5C>T rs771669680 0.00001
NM_017739.4(POMGNT1):c.751+4G>C rs768307488 0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) rs774752168 0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys) rs148131756 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_017739.4(POMGNT1):c.908C>T (p.Pro303Leu) rs753453050 0.00001
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu) rs752124301 0.00001
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His) rs368653589 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg) rs1306444778 0.00001
NM_017739.4(POMGNT1):c.*2A>T rs1188540095
NM_017739.4(POMGNT1):c.*335_*361del rs754791169
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.*499G>A rs866924336
NM_017739.4(POMGNT1):c.*513del rs1553162438
NM_017739.4(POMGNT1):c.*5TCC[1] rs780919404
NM_017739.4(POMGNT1):c.1111-10C>A rs1277266739
NM_017739.4(POMGNT1):c.1111-7C>T rs1414733588
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=) rs183932527
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn) rs1657843296
NM_017739.4(POMGNT1):c.1413+6T>G rs1160554172
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile) rs1253221637
NM_017739.4(POMGNT1):c.1456C>G (p.Arg486Gly) rs534543454
NM_017739.4(POMGNT1):c.1462C>G (p.Arg488Gly) rs727504103
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.1693T>A (p.Ser565Thr) rs753688195
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=) rs1657576580
NM_017739.4(POMGNT1):c.1842_1844del (p.Leu614del) rs1553162667
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp) rs763071717
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu) rs6659553
NM_017739.4(POMGNT1):c.1876G>A (p.Val626Ile) rs199723646
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val) rs757749808
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe) rs757749808
NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn) rs144068158
NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) rs1553162587
NM_017739.4(POMGNT1):c.415G>C (p.Ala139Pro) rs764809782
NM_017739.4(POMGNT1):c.419C>T (p.Thr140Met) rs766157232
NM_017739.4(POMGNT1):c.421-3C>T rs1658202678
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup) rs1553163909
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro) rs949714416
NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg) rs1658069732
NM_017739.4(POMGNT1):c.706G>C (p.Asp236His) rs201525710
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro) rs386834010

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