ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2O

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Total variants: 57
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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.-11G>A rs80107141 0.00484
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_017739.4(POMGNT1):c.*221G>A rs181362801 0.00374
NM_017739.4(POMGNT1):c.*451C>T rs148903585 0.00364
NM_017739.4(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066 0.00264
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.*34G>A rs200540049 0.00076
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017739.4(POMGNT1):c.752-15G>A rs368317059 0.00011
NM_017739.4(POMGNT1):c.-141A>G rs886046387 0.00009
NM_017739.4(POMGNT1):c.1285-6C>T rs377292905 0.00009
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.1540-6C>T rs770449394 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
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.1738C>A (p.Arg580=) rs386834018 0.00003
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_017739.4(POMGNT1):c.46C>T (p.Arg16Trp) rs34058684 0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln) rs766382416 0.00002
NM_017739.4(POMGNT1):c.277A>G (p.Ser93Gly) rs751402236 0.00002
NM_017739.4(POMGNT1):c.-64G>A rs927602645 0.00001
NM_017739.4(POMGNT1):c.1482C>T (p.Asp494=) rs769213562 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.250C>T (p.Arg84Cys) rs1238403887 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.813A>C (p.Lys271Asn) rs757156888 0.00001
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) rs1476814352 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_017739.4(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589 0.00001
NM_017739.4(POMGNT1):c.*207G>A rs1657534329
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.-144C>T rs1571674193
NM_017739.4(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.121A>G (p.Thr41Ala) rs886046386
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly) rs2148172085
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=) rs1657621738
NM_017739.4(POMGNT1):c.1742T>C (p.Met581Thr)
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) rs1657570765
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) rs747723242
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys) rs972657462
NM_017739.4(POMGNT1):c.287G>A (p.Arg96Gln) rs200227264
NM_017739.4(POMGNT1):c.355-3T>G rs1553163972
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) rs886043030
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208

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