ClinVar Miner

List of variants in gene MUSK reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.913+310C>T rs78852485 0.03317
NM_005592.4(MUSK):c.1385-90T>C rs572195 0.02200
NM_005592.4(MUSK):c.1928-267C>A rs146632483 0.01156
NM_005592.4(MUSK):c.914-348G>A rs138389139 0.01031
NM_005592.4(MUSK):c.486+102A>G rs117834907 0.00970
NM_005592.4(MUSK):c.358+213C>T rs142976823 0.00950
NM_005592.4(MUSK):c.206+61A>G rs114710421 0.00940
NM_005592.4(MUSK):c.1385-70A>G rs116088710 0.00871
NM_005592.4(MUSK):c.358+120G>A rs184948495 0.00829
NC_000009.12:g.110668647G>A rs149441176 0.00827
NM_005592.4(MUSK):c.358+190C>A rs148575042 0.00796
NM_005592.4(MUSK):c.1927+134T>C rs145530928 0.00696
NM_005592.4(MUSK):c.921-286T>A rs147878163 0.00695
NM_005592.4(MUSK):c.1586+99T>C rs141079554 0.00570
NC_000009.12:g.110668649G>A rs146290093 0.00394
NC_000009.12:g.110668644A>G rs138941963 0.00347
NM_005592.4(MUSK):c.358+132T>C rs371438251 0.00321
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404 0.00208
NM_005592.4(MUSK):c.1361-12T>C rs115337040 0.00125
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
NM_005592.4(MUSK):c.358+20G>A rs144807641 0.00089
NM_005592.4(MUSK):c.1779-7C>T rs114362384 0.00072
NM_005592.4(MUSK):c.1928-4C>A rs375406874 0.00038
NM_005592.4(MUSK):c.300G>A (p.Thr100=) rs180928221 0.00034
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr) rs202045225 0.00029
NM_005592.4(MUSK):c.920+142C>A rs903123754 0.00001
NM_005592.4(MUSK):c.1385-84A>C rs572223
NM_005592.4(MUSK):c.1778+114AT[9]
NM_005592.4(MUSK):c.629-5501T>G rs114766491
NM_005592.4(MUSK):c.754-190A>T rs75883504

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