ClinVar Miner

List of variants studied for skeletal muscle disorder by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (610):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955 0.00002
NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) rs374042455 0.00002
NM_001077365.2(POMT1):c.280+1G>T rs746823238 0.00001
NM_001164508.2(NEB):c.12330+2T>C rs1374971806 0.00001
NM_001267550.2(TTN):c.56648-1G>A rs769912484 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_000231.3(SGCG):c.579-5729_702+1720del
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs) rs1553416039
NM_001164508.2(NEB):c.4299+4A>G rs781754253
NM_001256007.3(PNPLA8):c.944_945del (p.Lys314_Tyr315insTer) rs2154516696
NM_001267550.2(TTN):c.36281dup (p.His12095fs) rs2154259448
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys) rs965997128
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001267550.2(TTN):c.74760_74767delinsAC (p.Ser24921_Asp24923delinsHis) rs2154169263
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_005262.3(GFER):c.219del (p.Cys74fs) rs1597063051
NM_005262.3(GFER):c.259-25_259-24del rs1597063303
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007215.4(POLG2):c.729_730del (p.Pro244fs)
Single allele

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