ClinVar Miner

List of variants reported as uncertain significance for hereditary skeletal muscle disorder by OMIM

Included ClinVar conditions (586):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser) rs28928909 0.00121
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_018116.4(MSTO1):c.22G>A (p.Val8Met) rs762798018 0.00005
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989 0.00004
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser) rs387906891 0.00003
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) rs886037840 0.00001
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser) rs387906892 0.00001
NC_012920.1(MT-TL1):m.3249G>A rs199474667
NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu) rs515726194
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) rs119103247
NM_198859.3(PRICKLE2):c.[443G>A;457G>A]

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