ClinVar Miner

List of variants reported as uncertain significance for muscular dystrophy-dystroglycanopathy, type C by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00061
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001079802.2(FKTN):c.*3516T>C rs1041010308 0.00026
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val) rs199682341 0.00024
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser) rs146234177 0.00021
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe) rs201073763 0.00021
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
NM_001079802.2(FKTN):c.*2433G>A rs886063329 0.00015
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 0.00014
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001079802.2(FKTN):c.*2508G>T rs886063330 0.00011
NM_001079802.2(FKTN):c.*3547C>T rs886063336 0.00011
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met) rs148498470 0.00010
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) rs200204831 0.00009
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001077365.2(POMT1):c.1253C>T (p.Ala418Val) rs369651101 0.00006
NM_001077365.2(POMT1):c.2059G>A (p.Ala687Thr) rs535544133 0.00006
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg) rs747506380 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) rs767592155 0.00006
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) rs371741722 0.00006
NM_001079802.2(FKTN):c.*954T>A rs886063323 0.00005
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001077365.2(POMT1):c.1417G>A (p.Gly473Arg) rs376882399 0.00004
NM_001077365.2(POMT1):c.2167C>T (p.Arg723Ter) rs202202445 0.00004
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_013382.7(POMT2):c.1106G>A (p.Arg369His) rs398124260 0.00004
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) rs759936979 0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_004393.6(DAG1):c.424G>A (p.Gly142Arg) rs749962207 0.00002
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) rs768256055 0.00002
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) rs375363915 0.00002
NM_021971.4(GMPPB):c.893G>A (p.Arg298His) rs766498097 0.00002
NM_001077365.2(POMT1):c.1074T>A (p.Asp358Glu) rs765263668 0.00001
NM_001077365.2(POMT1):c.2096A>G (p.Tyr699Cys) rs754444374 0.00001
NM_001077365.2(POMT1):c.724G>A (p.Ala242Thr) rs779771679 0.00001
NM_001079802.2(FKTN):c.*5003T>G rs886063340 0.00001
NM_001079802.2(FKTN):c.*5161C>T rs886063341 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) rs746813994 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) rs774466835 0.00001
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) rs749335757 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln) rs768700187 0.00001
NM_017739.4(POMGNT1):c.652+5C>T rs771669680 0.00001
NM_001077365.2(POMT1):c.1525C>G (p.Pro509Ala) rs140398617
NM_001077365.2(POMT1):c.1799G>T (p.Arg600Leu) rs753485021
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) rs1176794033
NM_001079802.2(FKTN):c.530A>G (p.His177Arg) rs773322779
NM_001079802.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_013382.7(POMT2):c.118C>G (p.Arg40Gly) rs755650000
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
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.188G>C (p.Arg63Pro) rs141421141
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) rs1046275062
NM_032806.6(POMGNT2):c.1385G>A (p.Arg462Gln) rs34083889

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