ClinVar Miner

List of variants reported as uncertain significance for X-linked myopathy with postural muscle atrophy by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr) rs752366165 0.00018
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile) rs139402062 0.00017
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) rs754308516 0.00011
NM_001159699.2(FHL1):c.278A>G (p.Asn93Ser) rs761300463 0.00009
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu) rs781053469 0.00006
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val) rs146125558 0.00005
NM_001159699.2(FHL1):c.817G>A (p.Val273Met) rs190006104 0.00005
NM_001159699.2(FHL1):c.248G>A (p.Arg83His) rs745544703 0.00003
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr) rs139625615 0.00003
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr) rs756434530 0.00003
NM_001159699.2(FHL1):c.379+4C>T rs769453769 0.00003
NM_001159699.2(FHL1):c.832A>G (p.Lys278Glu) rs749265329 0.00003
NM_001159699.2(FHL1):c.161A>G (p.Asn54Ser) rs886043917 0.00002
NM_001159699.2(FHL1):c.179G>A (p.Arg60His) rs11557264 0.00002
NM_001159699.2(FHL1):c.215A>G (p.Tyr72Cys) rs758269641 0.00002
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys) rs1379221574 0.00002
NM_001159699.2(FHL1):c.284C>A (p.Thr95Asn) rs764567944 0.00002
NM_001159699.2(FHL1):c.391G>T (p.Val131Leu) rs374479477 0.00002
NM_001159699.2(FHL1):c.545A>G (p.Asn182Ser) rs1569530504 0.00002
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg) rs1230410861 0.00002
NM_001159699.2(FHL1):c.644G>A (p.Arg215His) rs886043053 0.00002
NM_001159699.2(FHL1):c.856C>G (p.Gln286Glu) rs747922027 0.00002
NM_001159699.2(FHL1):c.110A>G (p.Gln37Arg) rs1187549360 0.00001
NM_001159699.2(FHL1):c.118G>A (p.Gly40Ser) rs772911535 0.00001
NM_001159699.2(FHL1):c.137A>G (p.Lys46Arg) rs1226091388 0.00001
NM_001159699.2(FHL1):c.148A>G (p.Lys50Glu) rs754421860 0.00001
NM_001159699.2(FHL1):c.194C>T (p.Ala65Val) rs372301312 0.00001
NM_001159699.2(FHL1):c.204+6G>A rs763404867 0.00001
NM_001159699.2(FHL1):c.239C>T (p.Thr80Ile) rs746834335 0.00001
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser) rs774919566 0.00001
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys) rs762126486 0.00001
NM_001159699.2(FHL1):c.322T>A (p.Cys108Ser) rs1375411779 0.00001
NM_001159699.2(FHL1):c.401A>C (p.Lys134Thr) rs1457366238 0.00001
NM_001159699.2(FHL1):c.457G>A (p.Gly153Arg) rs191071512 0.00001
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn) rs1157004659 0.00001
NM_001159699.2(FHL1):c.499G>A (p.Val167Met) rs1332573754 0.00001
NM_001159699.2(FHL1):c.549+5G>A rs747714932 0.00001
NM_001159699.2(FHL1):c.551C>T (p.Ala184Val) rs753677369 0.00001
NM_001159699.2(FHL1):c.579G>C (p.Gln193His) rs2073910764 0.00001
NM_001159699.2(FHL1):c.607G>T (p.Val203Leu) rs1300278653 0.00001
NM_001159699.2(FHL1):c.728C>A (p.Pro243His) rs746311721 0.00001
NM_001159699.2(FHL1):c.737-2dup rs752156219 0.00001
NM_001159699.2(FHL1):c.767A>C (p.Tyr256Ser) rs1161827184 0.00001
NM_001159699.2(FHL1):c.836G>A (p.Arg279His) rs377071251 0.00001
NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe) rs760214177 0.00001
NM_001159702.3(FHL1):c.797G>A (p.Arg266Gln) rs199818971 0.00001
NC_000023.10:g.(?_135288556)_(135293528_?)dup
NC_000023.10:g.(?_135288592)_(135292184_?)dup
NC_000023.10:g.(?_135289169)_(135292189_?)dup
NC_000023.11:g.(?_136209233)_(136211369_?)del
NM_001159699.2(FHL1):c.121C>T (p.His41Tyr) rs1569530250
NM_001159699.2(FHL1):c.139T>C (p.Cys47Arg)
NM_001159699.2(FHL1):c.140_141delinsTA (p.Cys47Leu) rs2148371771
NM_001159699.2(FHL1):c.143T>A (p.Phe48Tyr)
NM_001159699.2(FHL1):c.143T>C (p.Phe48Ser)
NM_001159699.2(FHL1):c.146A>G (p.Asp49Gly)
NM_001159699.2(FHL1):c.148A>C (p.Lys50Gln) rs754421860
NM_001159699.2(FHL1):c.150G>T (p.Lys50Asn)
NM_001159699.2(FHL1):c.166T>C (p.Cys56Arg) rs2148371880
NM_001159699.2(FHL1):c.167G>A (p.Cys56Tyr) rs1556638703
NM_001159699.2(FHL1):c.178C>T (p.Arg60Cys)
NM_001159699.2(FHL1):c.190G>A (p.Gly64Ser) rs1467233713
NM_001159699.2(FHL1):c.199T>C (p.Ser67Pro)
NM_001159699.2(FHL1):c.200C>T (p.Ser67Phe) rs1327221666
NM_001159699.2(FHL1):c.215A>T (p.Tyr72Phe)
NM_001159699.2(FHL1):c.223C>T (p.Arg75Cys) rs1343871742
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn) rs746834335
NM_001159699.2(FHL1):c.245T>C (p.Phe82Ser)
NM_001159699.2(FHL1):c.251G>A (p.Cys84Tyr)
NM_001159699.2(FHL1):c.258G>C (p.Lys86Asn) rs2073861633
NM_001159699.2(FHL1):c.259T>C (p.Cys87Arg) rs2148373315
NM_001159699.2(FHL1):c.263T>C (p.Leu88Pro)
NM_001159699.2(FHL1):c.268C>T (p.Pro90Ser)
NM_001159699.2(FHL1):c.269C>G (p.Pro90Arg)
NM_001159699.2(FHL1):c.300CAA[1] (p.Asn101del) rs1237021594
NM_001159699.2(FHL1):c.301A>C (p.Asn101His) rs2073862975
NM_001159699.2(FHL1):c.317A>G (p.Asn106Ser)
NM_001159699.2(FHL1):c.332G>A (p.Arg111Gln)
NM_001159699.2(FHL1):c.334G>A (p.Glu112Lys)
NM_001159699.2(FHL1):c.347A>G (p.Lys116Arg)
NM_001159699.2(FHL1):c.353A>T (p.Lys118Met) rs1311888697
NM_001159699.2(FHL1):c.356G>T (p.Gly119Val) rs1556638919
NM_001159699.2(FHL1):c.360C>G (p.Cys120Trp) rs1277704131
NM_001159699.2(FHL1):c.385C>A (p.Gln129Lys)
NM_001159699.2(FHL1):c.388_390dup (p.Asn130dup) rs2073883748
NM_001159699.2(FHL1):c.391G>A (p.Val131Met)
NM_001159699.2(FHL1):c.398A>G (p.Tyr133Cys)
NM_001159699.2(FHL1):c.404G>C (p.Gly135Ala) rs886042453
NM_001159699.2(FHL1):c.404G>T (p.Gly135Val) rs886042453
NM_001159699.2(FHL1):c.419A>G (p.Lys140Arg)
NM_001159699.2(FHL1):c.424T>C (p.Cys142Arg) rs1569530450
NM_001159699.2(FHL1):c.425G>C (p.Cys142Ser)
NM_001159699.2(FHL1):c.427T>C (p.Phe143Leu) rs1603271576
NM_001159699.2(FHL1):c.434G>A (p.Cys145Tyr)
NM_001159699.2(FHL1):c.436A>G (p.Ser146Gly) rs878854460
NM_001159699.2(FHL1):c.449A>C (p.Gln150Pro) rs2148375919
NM_001159699.2(FHL1):c.452T>A (p.Val151Asp) rs2073887416
NM_001159699.2(FHL1):c.458G>T (p.Gly153Val)
NM_001159699.2(FHL1):c.466A>C (p.Ser156Arg)
NM_001159699.2(FHL1):c.469T>C (p.Phe157Leu) rs2073888626
NM_001159699.2(FHL1):c.482_484dup (p.Gly161dup) rs1314023088
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys) rs2148376111
NM_001159699.2(FHL1):c.494_496del (p.Tyr165del) rs886044209
NM_001159699.2(FHL1):c.500T>C (p.Val167Ala)
NM_001159699.2(FHL1):c.500T>G (p.Val167Gly)
NM_001159699.2(FHL1):c.502A>T (p.Thr168Ser) rs2073890274
NM_001159699.2(FHL1):c.505T>G (p.Cys169Gly) rs122458144
NM_001159699.2(FHL1):c.515C>A (p.Thr172Asn)
NM_001159699.2(FHL1):c.518A>G (p.Lys173Arg)
NM_001159699.2(FHL1):c.530A>G (p.His177Arg)
NM_001159699.2(FHL1):c.531T>G (p.His177Gln)
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp) rs377693754
NM_001159699.2(FHL1):c.535G>A (p.Val179Met)
NM_001159699.2(FHL1):c.536T>G (p.Val179Gly) rs1556639237
NM_001159699.2(FHL1):c.545A>C (p.Asn182Thr) rs1569530504
NM_001159699.2(FHL1):c.548A>G (p.Lys183Arg)
NM_001159699.2(FHL1):c.549+3A>G
NM_001159699.2(FHL1):c.549+4T>C
NM_001159699.2(FHL1):c.549+4T>G
NM_001159699.2(FHL1):c.550-13C>G rs372709825
NM_001159699.2(FHL1):c.562G>A (p.Gly188Arg) rs2148378198
NM_001159699.2(FHL1):c.572C>G (p.Thr191Ser)
NM_001159699.2(FHL1):c.613G>A (p.Val205Ile)
NM_001159699.2(FHL1):c.617C>A (p.Thr206Asn)
NM_001159699.2(FHL1):c.621C>G (p.Cys207Trp) rs2148378483
NM_001159699.2(FHL1):c.623C>G (p.Ser208Cys) rs1406462908
NM_001159699.2(FHL1):c.635C>G (p.Ala212Gly) rs2073912710
NM_001159699.2(FHL1):c.63T>G (p.Phe21Leu) rs2073841797
NM_001159699.2(FHL1):c.640C>A (p.Gln214Lys)
NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)
NM_001159699.2(FHL1):c.665A>G (p.Gln222Arg) rs915687031
NM_001159699.2(FHL1):c.676G>A (p.Val226Met)
NM_001159699.2(FHL1):c.683G>C (p.Cys228Ser)
NM_001159699.2(FHL1):c.68G>T (p.Cys23Phe) rs2073842039
NM_001159699.2(FHL1):c.693C>G (p.Asn231Lys) rs2073914454
NM_001159699.2(FHL1):c.701C>G (p.Ala234Gly)
NM_001159699.2(FHL1):c.703AAG[3] (p.Lys236dup) rs1569530609
NM_001159699.2(FHL1):c.725A>G (p.Asn242Ser) rs2073916017
NM_001159699.2(FHL1):c.72C>G (p.His24Gln)
NM_001159699.2(FHL1):c.736+3_736+4del
NM_001159699.2(FHL1):c.736+5G>T
NM_001159699.2(FHL1):c.737-3C>T
NM_001159699.2(FHL1):c.740T>C (p.Phe247Ser)
NM_001159699.2(FHL1):c.755G>C (p.Ser252Thr)
NM_001159699.2(FHL1):c.757G>A (p.Val253Met)
NM_001159699.2(FHL1):c.76T>C (p.Cys26Arg) rs2148371530
NM_001159699.2(FHL1):c.776A>G (p.Gln259Arg) rs1389916579
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr) rs2148371537
NM_001159699.2(FHL1):c.784C>T (p.His262Tyr) rs1569530811
NM_001159699.2(FHL1):c.786C>A (p.His262Gln) rs141231353
NM_001159699.2(FHL1):c.794G>A (p.Cys265Tyr) rs56391414
NM_001159699.2(FHL1):c.794G>C (p.Cys265Ser) rs56391414
NM_001159699.2(FHL1):c.794G>T (p.Cys265Phe)
NM_001159699.2(FHL1):c.802T>C (p.Cys268Arg)
NM_001159699.2(FHL1):c.803G>A (p.Cys268Tyr) rs1569530823
NM_001159699.2(FHL1):c.811T>C (p.Cys271Arg) rs1569530825
NM_001159699.2(FHL1):c.812G>A (p.Cys271Tyr) rs869025431
NM_001159699.2(FHL1):c.814T>A (p.Ser272Thr) rs2073964922
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu) rs190006104
NM_001159699.2(FHL1):c.823C>G (p.Leu275Val) rs2148383784
NM_001159699.2(FHL1):c.826G>A (p.Ala276Thr)
NM_001159699.2(FHL1):c.830A>G (p.Asn277Ser) rs2148383804
NM_001159699.2(FHL1):c.833A>G (p.Lys278Arg)
NM_001159699.2(FHL1):c.834G>T (p.Lys278Asn)
NM_001159699.2(FHL1):c.835C>T (p.Arg279Cys)
NM_001159699.2(FHL1):c.844T>C (p.Phe282Leu)
NM_001159699.2(FHL1):c.847C>A (p.His283Asn) rs2148383871
NM_001159699.2(FHL1):c.852G>C (p.Gln284His) rs774024150
NM_001159699.2(FHL1):c.865T>C (p.Cys289Arg)
NM_001159699.2(FHL1):c.865T>G (p.Cys289Gly) rs2073967346
NM_001159699.2(FHL1):c.866G>A (p.Cys289Tyr)
NM_001159699.2(FHL1):c.866G>C (p.Cys289Ser) rs1603273709
NM_001159699.2(FHL1):c.866G>T (p.Cys289Phe) rs1603273709
NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser) rs1039991254
NM_001159699.2(FHL1):c.876_877del (p.Ala293fs)
NM_001159699.2(FHL1):c.891A>C (p.Ter297Tyr) rs2073968496
NM_001159699.2(FHL1):c.891A>T (p.Ter297Tyr)
NM_001159699.2(FHL1):c.91C>G (p.Gln31Glu)
NM_001449.4(FHL1):c.157-?_*1334+?dup

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