ClinVar Miner

List of variants studied for muscle tissue disorder by Clinical Genetics Laboratory, Region Ostergotland

Included ClinVar conditions (1088):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NC_000011.10:g.47337730dup rs397515963 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.773-1G>C rs2142865708
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_001267550.2(TTN):c.47385dup (p.Glu15796Ter)
NM_001267550.2(TTN):c.47486_47498del (p.Glu15828_Tyr15829insTer)
NM_001267550.2(TTN):c.73200del (p.Ile24399_Tyr24400insTer)
NM_001267550.2(TTN):c.77604T>G (p.Tyr25868Ter) rs752137856
NM_001458.5(FLNC):c.539A>G (p.Asn180Ser) rs2128933682
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_004281.4(BAG3):c.1119T>A (p.Cys373Ter)

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