ClinVar Miner

List of variants in gene MUSK reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.1586+26T>C rs484010 0.94561
NM_005592.4(MUSK):c.629-5755C>T rs10817087 0.88774
NM_005592.4(MUSK):c.1384+275G>T rs2767012 0.85822
NM_005592.4(MUSK):c.1385-94A>C rs572189 0.85670
NM_005592.4(MUSK):c.1384+250T>A rs2767011 0.85433
NM_005592.4(MUSK):c.754-143C>T rs2846448 0.77486
NM_005592.4(MUSK):c.206+293C>T rs7852446 0.71281
NM_005592.4(MUSK):c.207-126G>C rs7869057 0.71268
NM_005592.4(MUSK):c.80-260A>G rs4132614 0.65030
NM_005592.4(MUSK):c.1385-300A>G rs2821145 0.54221
NM_005592.4(MUSK):c.1927+50T>C rs2766999 0.48056
NM_005592.4(MUSK):c.914-371T>C rs10980561 0.41438
NM_005592.3(MUSK):c.-414C>G rs3001124 0.38049
NM_005592.4(MUSK):c.1586+180G>A rs1170327 0.28992
NM_005592.4(MUSK):c.629-98A>C rs4428734 0.28288
NM_005592.4(MUSK):c.629-5606G>A rs12551974 0.16560
NM_005592.4(MUSK):c.402G>A (p.Glu134=) rs10980531 0.16445
NM_005592.4(MUSK):c.359-335G>A rs10980530 0.16101
NM_005592.4(MUSK):c.487-236G>A rs7031870 0.16068
NM_005592.4(MUSK):c.537C>T (p.Asn179=) rs41279051 0.13243
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly) rs35176182 0.12204
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile) rs2274419 0.09566
NM_005592.4(MUSK):c.1779-213T>C rs55804137 0.09396
NM_005592.4(MUSK):c.206+28A>T rs75001517 0.09001
NM_005592.4(MUSK):c.629-5559A>C rs12348614 0.05862
NM_005592.4(MUSK):c.1385-225A>G rs68053014 0.05462
NM_005592.4(MUSK):c.*153G>A rs111837461 0.04940
NM_005592.4(MUSK):c.914-604C>T rs7865908 0.04893
NM_005592.4(MUSK):c.207-319G>A rs71501642 0.04720
NM_005592.4(MUSK):c.207-20T>C rs71501643 0.04718
NM_005592.4(MUSK):c.921-112A>G rs77508668 0.04298
NM_005592.4(MUSK):c.913+310C>T rs78852485 0.03317
NM_005592.4(MUSK):c.914-596C>T rs113831512 0.03222
NM_005592.4(MUSK):c.1360+48A>G rs16915380 0.03142
NM_005592.4(MUSK):c.754-315A>C rs77970534 0.03014
NM_005592.4(MUSK):c.1778+115T>C rs569221258 0.03011
NM_005592.4(MUSK):c.206+178A>T rs113148487 0.02473
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_005592.4(MUSK):c.1385-90T>C rs572195 0.02200
NM_005592.4(MUSK):c.299C>T (p.Thr100Met) rs35142681 0.02176
NM_005592.4(MUSK):c.-82T>C rs41279047 0.01527
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.1991A>G (p.Asn664Ser) rs55963442 0.00777
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.1189T>C (p.Tyr397His) rs79843573 0.00659
NM_005592.4(MUSK):c.1586+99T>C rs141079554 0.00570
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
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.1026G>A (p.Ala342=) rs200434321 0.00098
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.2368G>A (p.Val790Met) rs199476083 0.00018
NM_005592.4(MUSK):c.1061C>T (p.Thr354Met) rs200064775 0.00010
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg) rs768074747 0.00009
NM_005592.4(MUSK):c.79+2T>G rs200783529 0.00004
NM_005592.4(MUSK):c.1128C>A (p.Asn376Lys) rs773285595 0.00003
NM_005592.4(MUSK):c.2300G>A (p.Arg767His) rs370079610 0.00003
NM_005592.4(MUSK):c.2077G>C (p.Gly693Arg) rs1216581384 0.00002
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys) rs200450921 0.00002
NM_005592.4(MUSK):c.1038G>T (p.Glu346Asp) rs764142979 0.00001
NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys) rs376837791 0.00001
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter) rs1487680236 0.00001
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala) rs373304727 0.00001
NM_005592.4(MUSK):c.920+142C>A rs903123754 0.00001
NM_005592.4(MUSK):c.1360+116del rs11349092
NM_005592.4(MUSK):c.1385-84A>C rs572223
NM_005592.4(MUSK):c.1778+114AT[7] rs60715454
NM_005592.4(MUSK):c.1778+114AT[9]
NM_005592.4(MUSK):c.1778+171TA[5] rs72478397
NM_005592.4(MUSK):c.1779-308dup rs10659550
NM_005592.4(MUSK):c.1779-309_1779-308del rs10659550
NM_005592.4(MUSK):c.1779-309_1779-308dup rs10659550
NM_005592.4(MUSK):c.1779-318_1779-308del rs10659550
NM_005592.4(MUSK):c.1927+272del rs60153154
NM_005592.4(MUSK):c.206+291del rs144515620
NM_005592.4(MUSK):c.2208C>G (p.Asn736Lys) rs770373727
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr) rs1554757211
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005592.4(MUSK):c.486+232G>A rs12001846
NM_005592.4(MUSK):c.486+67_486+70del rs67349201
NM_005592.4(MUSK):c.487-133T>C rs41279049
NM_005592.4(MUSK):c.628+22C>G rs41279053
NM_005592.4(MUSK):c.629-5501T>G rs114766491
NM_005592.4(MUSK):c.629-5522dup rs147019531
NM_005592.4(MUSK):c.754-190A>T rs75883504
NM_005592.4(MUSK):c.80-282_80-281insCTCA rs5899911
NM_005592.4(MUSK):c.920+25del rs147974075

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