ClinVar Miner

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

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_017739.4(POMGNT1):c.236-13T>C rs150578902 0.00196
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_017739.4(POMGNT1):c.120+3A>G rs543271070 0.00019
NM_017739.4(POMGNT1):c.22C>A (p.Pro8Thr) rs186444670 0.00011
NM_017739.4(POMGNT1):c.188G>A (p.Arg63Gln) rs141421141 0.00006
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=) rs138950267 0.00005
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys) rs201361648 0.00004
NM_017739.4(POMGNT1):c.268C>T (p.Arg90Cys) rs144959783 0.00004
NM_017739.4(POMGNT1):c.354+3C>T rs372425155 0.00004
NM_017739.4(POMGNT1):c.287G>C (p.Arg96Pro) rs200227264 0.00003
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.106C>T (p.Arg36Trp) rs774633618 0.00002
NM_017739.4(POMGNT1):c.130G>A (p.Val44Met) rs764388322 0.00002
NM_017739.4(POMGNT1):c.185G>C (p.Arg62Pro) rs779506923 0.00002
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00002
NM_017739.4(POMGNT1):c.286C>T (p.Arg96Trp) rs770834730 0.00002
NM_017739.4(POMGNT1):c.-64G>A rs927602645 0.00001
NM_017739.4(POMGNT1):c.107G>A (p.Arg36Gln) rs768700187 0.00001
NM_017739.4(POMGNT1):c.110G>T (p.Arg37Ile) rs144746222 0.00001
NM_017739.4(POMGNT1):c.120+6G>C rs1344774466 0.00001
NM_017739.4(POMGNT1):c.137T>C (p.Phe46Ser) rs1314508009 0.00001
NM_017739.4(POMGNT1):c.157G>A (p.Val53Ile) rs766383336 0.00001
NM_017739.4(POMGNT1):c.160A>G (p.Asn54Asp) rs546654268 0.00001
NM_017739.4(POMGNT1):c.172A>G (p.Ile58Val) rs886044042 0.00001
NM_017739.4(POMGNT1):c.181A>G (p.Thr61Ala) rs768245322 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 0.00001
NM_017739.4(POMGNT1):c.304G>A (p.Glu102Lys) rs749603354 0.00001
NM_017739.4(POMGNT1):c.313T>C (p.Ser105Pro) rs780158040 0.00001
NM_017739.4(POMGNT1):c.325A>G (p.Lys109Glu) rs1459243404 0.00001
NM_017739.4(POMGNT1):c.330A>G (p.Val110=) rs1658269711 0.00001
NC_000001.10:g.(?_46654381)_(46659607_?)dup
NC_000001.10:g.(?_46654904)_(46660083_?)dup
NC_000001.10:g.(?_46654942)_(46655681_?)dup
NC_000001.10:g.(?_46654942)_(46656476_?)dup
NC_000001.10:g.(?_46654942)_(46661769_?)dup
NC_000001.10:g.(?_46654942)_(46663493_?)dup
NC_000001.11:g.(?_46188709)_(46194411_?)dup
NC_000001.11:g.(?_46189232)_(46197831_?)dup
NM_017739.4(POMGNT1):c.100G>A (p.Ala34Thr) rs1658356810
NM_017739.4(POMGNT1):c.104T>A (p.Leu35Gln) rs2148222413
NM_017739.4(POMGNT1):c.115T>C (p.Cys39Arg)
NM_017739.4(POMGNT1):c.116G>C (p.Cys39Ser) rs775392834
NM_017739.4(POMGNT1):c.120+4T>C rs1223030962
NM_017739.4(POMGNT1):c.120G>A (p.Gln40=) rs1658354104
NM_017739.4(POMGNT1):c.121-3C>T rs2148219601
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala) rs886046386
NM_017739.4(POMGNT1):c.127G>A (p.Ala43Thr)
NM_017739.4(POMGNT1):c.127G>C (p.Ala43Pro)
NM_017739.4(POMGNT1):c.134T>A (p.Leu45His) rs2148219431
NM_017739.4(POMGNT1):c.144G>A (p.Leu48=) rs776815245
NM_017739.4(POMGNT1):c.151G>A (p.Val51Ile) rs2148219344
NM_017739.4(POMGNT1):c.163A>G (p.Ile55Val) rs2148219236
NM_017739.4(POMGNT1):c.169T>G (p.Leu57Val)
NM_017739.4(POMGNT1):c.16C>T (p.Pro6Ser) rs1553164303
NM_017739.4(POMGNT1):c.184C>G (p.Arg62Gly) rs1352412667
NM_017739.4(POMGNT1):c.184C>T (p.Arg62Trp) rs1352412667
NM_017739.4(POMGNT1):c.185G>A (p.Arg62Gln) rs779506923
NM_017739.4(POMGNT1):c.188G>C (p.Arg63Pro) rs141421141
NM_017739.4(POMGNT1):c.196A>G (p.Ser66Gly)
NM_017739.4(POMGNT1):c.19A>G (p.Ser7Gly) rs2148222925
NM_017739.4(POMGNT1):c.214C>T (p.Pro72Ser) rs2148218769
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys) rs972657462
NM_017739.4(POMGNT1):c.235G>A (p.Asp79Asn) rs1658296449
NM_017739.4(POMGNT1):c.237T>G (p.Asp79Glu) rs748566125
NM_017739.4(POMGNT1):c.251G>A (p.Arg84His) rs373866304
NM_017739.4(POMGNT1):c.251G>T (p.Arg84Leu) rs373866304
NM_017739.4(POMGNT1):c.256G>C (p.Glu86Gln) rs1658280808
NM_017739.4(POMGNT1):c.259C>T (p.Pro87Ser) rs1557677993
NM_017739.4(POMGNT1):c.265C>T (p.Arg89Trp)
NM_017739.4(POMGNT1):c.275G>A (p.Gly92Asp) rs761706300
NM_017739.4(POMGNT1):c.284C>T (p.Pro95Leu) rs1334885135
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264
NM_017739.4(POMGNT1):c.30C>G (p.Ile10Met) rs781102649
NM_017739.4(POMGNT1):c.310T>G (p.Tyr104Asp) rs2148217123
NM_017739.4(POMGNT1):c.320G>A (p.Arg107His) rs527454065
NM_017739.4(POMGNT1):c.328G>T (p.Val110Leu) rs762760509
NM_017739.4(POMGNT1):c.341T>C (p.Val114Ala) rs2148216895
NM_017739.4(POMGNT1):c.353C>T (p.Thr118Met)
NM_017739.4(POMGNT1):c.354+6T>C rs1208898067
NM_017739.4(POMGNT1):c.354G>A (p.Thr118=)
NM_017739.4(POMGNT1):c.354G>C (p.Thr118=)
NM_017739.4(POMGNT1):c.38T>G (p.Phe13Cys)
NM_017739.4(POMGNT1):c.47G>A (p.Arg16Gln)
NM_017739.4(POMGNT1):c.52A>G (p.Lys18Glu) rs1553164287
NM_017739.4(POMGNT1):c.55C>T (p.Arg19Trp) rs757941122
NM_017739.4(POMGNT1):c.61T>C (p.Trp21Arg) rs2148222670
NM_017739.4(POMGNT1):c.6C>G (p.Asp2Glu)
NM_017739.4(POMGNT1):c.70A>G (p.Thr24Ala) rs766907690
NM_017739.4(POMGNT1):c.74_75delinsTT (p.Trp25Phe) rs2148222600
NM_017739.4(POMGNT1):c.7G>C (p.Asp3His) rs201637813
NM_017739.4(POMGNT1):c.97C>T (p.Arg33Trp) rs750839370

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