ClinVar Miner

List of variants reported as uncertain significance for congenital myopathy by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001382567.1(STIM1):c.1634+319G>A rs118128831 0.00808
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_001382567.1(STIM1):c.1634+269C>G rs139558513 0.00229
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00163
NM_001382567.1(STIM1):c.1634+287G>A rs562406813 0.00157
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_032790.4(ORAI1):c.100A>C (p.Ser34Arg) rs781829024 0.00102
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) rs200792813 0.00024
NM_032578.4(MYPN):c.952G>A (p.Val318Ile) rs112518450 0.00021
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln) rs199804244 0.00019
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val) rs750326949 0.00011
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu) rs745650222 0.00008
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly) rs757348453 0.00006
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) rs200653747 0.00004
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His) rs558239439 0.00004
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) rs755392435 0.00002
NM_001382567.1(STIM1):c.2026C>G (p.Pro676Ala) rs1164327463 0.00001
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668 0.00001
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) rs564582352 0.00001
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001
NM_032608.7(MYO18B):c.2135G>A (p.Arg712His) rs772067339 0.00001
NM_001103.4(ACTN2):c.2024T>C (p.Met675Thr)
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys) rs200864007
NM_001458.5(FLNC):c.469C>G (p.Arg157Gly) rs759739899
NM_002693.3(POLG):c.2466C>G (p.Pro822=) rs1235161601
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_004281.4(BAG3):c.1108C>G (p.Pro370Ala)
NM_004281.4(BAG3):c.467C>T (p.Ala156Val) rs572038196
NM_007078.3(LDB3):c.389_390insCAGGCACCC (p.Pro130_Gly131insArgHisPro)
NM_032578.4(MYPN):c.2246G>C (p.Ser749Thr)
NM_032578.4(MYPN):c.3158+6G>T

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