ClinVar Miner

List of variants reported as likely benign for X-linked myopathy with postural muscle atrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_001159699.2(FHL1):c.225C>A (p.Arg75=) rs143791173 0.00037
NM_001159702.3(FHL1):c.760C>T (p.Arg254Cys) rs367592190 0.00023
NM_001159699.2(FHL1):c.380-7T>C rs759571993 0.00010
NM_001159699.2(FHL1):c.737-11_737-8del rs754404850 0.00010
NM_001159699.2(FHL1):c.736+8A>G rs376754350 0.00007
NM_001159699.2(FHL1):c.408C>T (p.Thr136=) rs755900253 0.00005
NM_001159699.2(FHL1):c.456C>T (p.Ile152=) rs747594885 0.00005
NM_001159699.2(FHL1):c.550-15C>A rs764137409 0.00005
NM_001159699.2(FHL1):c.696T>C (p.Phe232=) rs758030097 0.00005
NM_001159699.2(FHL1):c.737-18C>T rs866716263 0.00005
NM_001159699.2(FHL1):c.243C>T (p.Cys81=) rs777580253 0.00004
NM_001159699.2(FHL1):c.651C>T (p.Thr217=) rs370597064 0.00004
NM_001159699.2(FHL1):c.737-10T>C rs767421819 0.00004
NM_001159699.2(FHL1):c.549+7T>G rs771700018 0.00003
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=) rs755385158 0.00003
NM_001159699.2(FHL1):c.816C>T (p.Ser272=) rs758552293 0.00003
NM_001159699.2(FHL1):c.834G>A (p.Lys278=) rs200510559 0.00003
NM_001159699.2(FHL1):c.204+18G>T rs764595951 0.00002
NM_001159699.2(FHL1):c.205-9G>C rs1178092343 0.00002
NM_001159699.2(FHL1):c.447G>A (p.Lys149=) rs768142579 0.00002
NM_001159699.2(FHL1):c.534C>T (p.Cys178=) rs377693754 0.00002
NM_001159699.2(FHL1):c.573T>G (p.Thr191=) rs2073910530 0.00002
NM_001159699.2(FHL1):c.612T>C (p.Cys204=) rs752193492 0.00002
NM_001159699.2(FHL1):c.737-12_737-8del rs761074507 0.00002
NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg) rs768705041 0.00002
NM_001159699.2(FHL1):c.159C>T (p.Ala53=) rs1458693544 0.00001
NM_001159699.2(FHL1):c.165C>T (p.Thr55=) rs770499208 0.00001
NM_001159699.2(FHL1):c.168T>C (p.Cys56=) rs1192668098 0.00001
NM_001159699.2(FHL1):c.189C>T (p.Ile63=) rs1424503926 0.00001
NM_001159699.2(FHL1):c.195G>A (p.Ala65=) rs1394298803 0.00001
NM_001159699.2(FHL1):c.213C>T (p.His71=) rs917304507 0.00001
NM_001159699.2(FHL1):c.379+8C>T rs1278172802 0.00001
NM_001159699.2(FHL1):c.380-9C>A rs766762163 0.00001
NM_001159699.2(FHL1):c.501G>A (p.Val167=) rs765313795 0.00001
NM_001159699.2(FHL1):c.519G>A (p.Lys173=) rs750331409 0.00001
NM_001159699.2(FHL1):c.531T>C (p.His177=) rs1268549852 0.00001
NM_001159699.2(FHL1):c.537G>C (p.Val179=) rs753535765 0.00001
NM_001159699.2(FHL1):c.550-10C>T rs376922604 0.00001
NM_001159699.2(FHL1):c.550-4C>T rs1188178386 0.00001
NM_001159699.2(FHL1):c.60G>A (p.Lys20=) rs1297632047 0.00001
NM_001159699.2(FHL1):c.708G>A (p.Lys236=) rs1253823085 0.00001
NM_001159699.2(FHL1):c.711T>C (p.Cys237=) rs757798011 0.00001
NM_001159699.2(FHL1):c.729C>G (p.Pro243=) rs1060504733 0.00001
NM_001159699.2(FHL1):c.736+18T>C rs774416768 0.00001
NM_001159699.2(FHL1):c.737-14T>C rs769912263 0.00001
NM_001159699.2(FHL1):c.789C>T (p.Asp263=) rs1057523997 0.00001
NM_001159699.2(FHL1):c.861G>T (p.Val287=) rs886043219 0.00001
NM_001159699.2(FHL1):c.870C>T (p.Pro290=) rs775356347 0.00001
NM_001159702.3(FHL1):c.714C>T (p.Ser238=) rs780429969 0.00001
NM_001159699.2(FHL1):c.105T>C (p.Tyr35=)
NM_001159699.2(FHL1):c.108G>A (p.Val36=) rs2073842775
NM_001159699.2(FHL1):c.111A>G (p.Gln37=)
NM_001159699.2(FHL1):c.120C>A (p.Gly40=)
NM_001159699.2(FHL1):c.132C>T (p.Cys44=)
NM_001159699.2(FHL1):c.135G>A (p.Leu45=) rs1603270464
NM_001159699.2(FHL1):c.177C>T (p.Cys59=)
NM_001159699.2(FHL1):c.183G>A (p.Lys61=) rs780792982
NM_001159699.2(FHL1):c.198C>T (p.Asp66=)
NM_001159699.2(FHL1):c.204+17T>C
NM_001159699.2(FHL1):c.204+7G>C
NM_001159699.2(FHL1):c.205-13G>A
NM_001159699.2(FHL1):c.205-14T>C
NM_001159699.2(FHL1):c.205-19C>T
NM_001159699.2(FHL1):c.222C>T (p.Asn74=)
NM_001159699.2(FHL1):c.225C>T (p.Arg75=)
NM_001159699.2(FHL1):c.240C>T (p.Thr80=)
NM_001159699.2(FHL1):c.246C>T (p.Phe82=)
NM_001159699.2(FHL1):c.261C>T (p.Cys87=)
NM_001159699.2(FHL1):c.297G>A (p.Lys99=)
NM_001159699.2(FHL1):c.309C>A (p.Ile103=) rs372049507
NM_001159699.2(FHL1):c.379+10C>T rs2148373876
NM_001159699.2(FHL1):c.379+11C>T
NM_001159699.2(FHL1):c.379+18C>T rs2148373890
NM_001159699.2(FHL1):c.379+19C>A
NM_001159699.2(FHL1):c.379+19C>T
NM_001159699.2(FHL1):c.379+7C>T
NM_001159699.2(FHL1):c.380-10C>G
NM_001159699.2(FHL1):c.380-14G>A
NM_001159699.2(FHL1):c.380-16T>G
NM_001159699.2(FHL1):c.380-6C>T
NM_001159699.2(FHL1):c.380-9C>T rs766762163
NM_001159699.2(FHL1):c.390C>T (p.Asn130=)
NM_001159699.2(FHL1):c.393G>A (p.Val131=) rs2148375546
NM_001159699.2(FHL1):c.429C>T (p.Phe143=)
NM_001159699.2(FHL1):c.432C>G (p.Thr144=) rs1603271583
NM_001159699.2(FHL1):c.432C>T (p.Thr144=) rs1603271583
NM_001159699.2(FHL1):c.456C>A (p.Ile152=) rs747594885
NM_001159699.2(FHL1):c.471C>T (p.Phe157=) rs2148376029
NM_001159699.2(FHL1):c.510T>C (p.His170=) rs1603271708
NM_001159699.2(FHL1):c.525C>T (p.Ala175=)
NM_001159699.2(FHL1):c.549+20C>T
NM_001159699.2(FHL1):c.54G>A (p.Ala18=)
NM_001159699.2(FHL1):c.550-13C>T
NM_001159699.2(FHL1):c.550-15C>T rs764137409
NM_001159699.2(FHL1):c.550-16A>G
NM_001159699.2(FHL1):c.550-18C>G
NM_001159699.2(FHL1):c.552C>T (p.Ala184=)
NM_001159699.2(FHL1):c.558A>G (p.Thr186=) rs2148378187
NM_001159699.2(FHL1):c.585G>A (p.Gln195=) rs2148378283
NM_001159699.2(FHL1):c.588C>A (p.Pro196=)
NM_001159699.2(FHL1):c.597C>G (p.Ala199=)
NM_001159699.2(FHL1):c.600T>C (p.Asp200=)
NM_001159699.2(FHL1):c.63T>C (p.Phe21=) rs2073841797
NM_001159699.2(FHL1):c.669T>C (p.Tyr223=) rs1603272258
NM_001159699.2(FHL1):c.726C>T (p.Asn242=) rs781537817
NM_001159699.2(FHL1):c.729C>A (p.Pro243=) rs1060504733
NM_001159699.2(FHL1):c.736+9A>T
NM_001159699.2(FHL1):c.737-10T>G
NM_001159699.2(FHL1):c.737-11T>C
NM_001159699.2(FHL1):c.737-13T>G
NM_001159699.2(FHL1):c.737-13_737-9del rs374867802
NM_001159699.2(FHL1):c.737-14_737-13insCTTT rs767661713
NM_001159699.2(FHL1):c.737-16T>C
NM_001159699.2(FHL1):c.737-18_737-15del rs2148383206
NM_001159699.2(FHL1):c.737-22_737-19del
NM_001159699.2(FHL1):c.737-6C>T
NM_001159699.2(FHL1):c.737-7C>T rs774150299
NM_001159699.2(FHL1):c.737-8C>A rs2076705
NM_001159699.2(FHL1):c.737-9_737-8delinsCT rs1603273550
NM_001159699.2(FHL1):c.738G>T (p.Gly246=)
NM_001159699.2(FHL1):c.750C>T (p.Gly250=)
NM_001159699.2(FHL1):c.753C>T (p.Ser251=) rs2148383466
NM_001159699.2(FHL1):c.75C>T (p.Tyr25=) rs2148371522
NM_001159699.2(FHL1):c.780C>A (p.Ser260=)
NM_001159699.2(FHL1):c.780C>T (p.Ser260=)
NM_001159699.2(FHL1):c.816C>A (p.Ser272=) rs758552293
NM_001159699.2(FHL1):c.819G>C (p.Val273=) rs2148383774
NM_001159699.2(FHL1):c.823C>T (p.Leu275=)
NM_001159699.2(FHL1):c.825G>C (p.Leu275=)
NM_001159699.2(FHL1):c.837C>A (p.Arg279=)
NM_001159699.2(FHL1):c.852G>A (p.Gln284=) rs774024150
NM_001159699.2(FHL1):c.855G>A (p.Glu285=) rs1556639756
NM_001159699.2(FHL1):c.870C>A (p.Pro290=)
NM_001159699.2(FHL1):c.876T>C (p.Cys292=)
NM_001159699.2(FHL1):c.87C>T (p.Pro29=)
NM_001159699.2(FHL1):c.888G>A (p.Leu296=)
NM_001159702.3(FHL1):c.718C>T (p.Pro240Ser) rs1603272887

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