ClinVar Miner

List of variants in gene MUSK reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.206+28A>T rs75001517 0.09001
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu) rs55786136 0.00337
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_005592.4(MUSK):c.486+7G>C rs187497836 0.00128
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
NM_005592.4(MUSK):c.1026G>A (p.Ala342=) rs200434321 0.00098
NM_005592.4(MUSK):c.358+20G>A rs144807641 0.00089
NM_005592.4(MUSK):c.1719T>C (p.Asn573=) rs373118888 0.00064
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr) rs202045225 0.00029
NM_005592.4(MUSK):c.1743C>A (p.Ile581=) rs756096336 0.00022
NM_005592.4(MUSK):c.549A>G (p.Glu183=) rs369254308 0.00022
NM_005592.4(MUSK):c.1806T>G (p.Pro602=) rs374078491 0.00013
NM_005592.4(MUSK):c.312T>C (p.Gly104=) rs56181115 0.00009
NM_005592.4(MUSK):c.1674G>A (p.Pro558=) rs541645382 0.00005
NM_005592.4(MUSK):c.1323T>C (p.His441=) rs369015815 0.00004
NM_005592.4(MUSK):c.2283C>T (p.Asn761=) rs777419932 0.00004
NM_005592.4(MUSK):c.*4T>C
NM_005592.4(MUSK):c.12C>T (p.Leu4=) rs374456998
NM_005592.4(MUSK):c.1338C>T (p.Ala446=)
NM_005592.4(MUSK):c.1401G>T (p.Thr467=) rs761610023
NM_005592.4(MUSK):c.629-5544A>G
NM_005592.4(MUSK):c.629-5550C>T

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