ClinVar Miner

List of variants in gene MUSK reported as pathogenic for fetal akinesia deformation sequence

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_005592.4(MUSK):c.40dup (p.Thr14fs) rs863223335 0.00004
NM_005592.4(MUSK):c.79+2T>G rs200783529 0.00004
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) rs751889864 0.00002
NM_005592.4(MUSK):c.2165T>C (p.Val722Ala) rs1238400476 0.00001
NM_005592.4(MUSK):c.2170C>T (p.Arg724Ter) rs1255531873 0.00001
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter) rs1487680236 0.00001
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser) rs551423795 0.00001
NM_005592.4(MUSK):c.496C>T (p.Arg166Ter) rs763656507 0.00001
NC_000009.11:g.(?_113431185)_(113550138_?)del
NC_000009.11:g.(?_113444934)_(113449568_?)del
NC_000009.11:g.(?_113449377)_(113449568_?)del
NC_000009.11:g.(?_113449377)_(113457830_?)del
NC_000009.11:g.(?_113509901)_(113538955_?)del
NC_000009.11:g.(?_113538048)_(113538955_?)del
NC_000009.11:g.(?_113547787)_(113548018_?)del
NC_000009.12:g.(?_110734231)_(110734395_?)del
NM_005592.4(MUSK):c.1091_1092del (p.Pro364fs)
NM_005592.4(MUSK):c.1218C>A (p.Cys406Ter)
NM_005592.4(MUSK):c.1299_1300del (p.Cys434fs)
NM_005592.4(MUSK):c.1384del (p.Thr462fs)
NM_005592.4(MUSK):c.1466C>G (p.Ser489Ter)
NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)
NM_005592.4(MUSK):c.1592C>G (p.Ser531Ter)
NM_005592.4(MUSK):c.1626del (p.Glu542fs) rs2077841802
NM_005592.4(MUSK):c.166dup (p.Gln56fs)
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter) rs752798426
NM_005592.4(MUSK):c.1826del (p.Lys609fs)
NM_005592.4(MUSK):c.1840del (p.Glu614fs)
NM_005592.4(MUSK):c.2010del (p.Met670fs)
NM_005592.4(MUSK):c.2021_2022dup (p.Val675fs)
NM_005592.4(MUSK):c.2034_2035del (p.His680fs)
NM_005592.4(MUSK):c.2122C>T (p.Gln708Ter)
NM_005592.4(MUSK):c.2192del (p.Cys731fs)
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)
NM_005592.4(MUSK):c.2T>C (p.Met1Thr)
NM_005592.4(MUSK):c.31_34del (p.His11fs)
NM_005592.4(MUSK):c.461G>A (p.Trp154Ter)
NM_005592.4(MUSK):c.545dup (p.Glu183fs)
NM_005592.4(MUSK):c.581dup (p.Asn194fs) rs1395885868
NM_005592.4(MUSK):c.582del (p.Asn194fs) rs2131720596
NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)
NM_005592.4(MUSK):c.81_84del (p.Pro28fs)
NM_005592.4(MUSK):c.845_848dup (p.Ile283fs)
NM_005592.4(MUSK):c.868del (p.Glu290fs)

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