ClinVar Miner

List of variants in gene DYSF reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) rs150917600 0.00037
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu) rs150942486 0.00020
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val) rs138357301 0.00017
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047 0.00016
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194 0.00014
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087 0.00009
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln) rs781777155 0.00006
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys) rs144116735 0.00006
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433 0.00005
NM_001130987.2(DYSF):c.5547-4C>T rs373098428 0.00005
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys) rs181551438 0.00004
NM_001130987.2(DYSF):c.4481C>T (p.Ser1494Leu) rs370898927 0.00004
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp) rs749002214 0.00003
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His) rs780134612 0.00003
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu) rs368556029 0.00003
NM_001130987.2(DYSF):c.734T>C (p.Leu245Pro) rs148739795 0.00003
NM_001130987.2(DYSF):c.760-8G>C rs748159785 0.00003
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser) rs747398354 0.00002
NM_001130987.2(DYSF):c.3338G>A (p.Arg1113His) rs917688073 0.00001
NM_001130987.2(DYSF):c.4177C>T (p.Arg1393Trp) rs368601323 0.00001
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly) rs933715192 0.00001
NM_001130987.2(DYSF):c.5311G>C (p.Glu1771Gln) rs762398889 0.00001
NM_001130987.2(DYSF):c.5458-5C>T rs780391061 0.00001
NM_001130987.2(DYSF):c.553G>A (p.Asp185Asn) rs754784694 0.00001
NM_001130987.2(DYSF):c.577G>A (p.Glu193Lys) rs763104746 0.00001
NM_001130987.2(DYSF):c.1149+1G>C rs398123763
NM_001130987.2(DYSF):c.1307A>G (p.Gln436Arg) rs1209127665
NM_001130987.2(DYSF):c.1687G>C (p.Gly563Arg) rs1176279921
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu) rs566595009
NM_001130987.2(DYSF):c.3305G>A (p.Arg1102His) rs369345918
NM_001130987.2(DYSF):c.3897+6G>A
NM_001130987.2(DYSF):c.5341C>T (p.His1781Tyr) rs776911222
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp) rs149357145
NM_001130987.2(DYSF):c.635C>T (p.Pro212Leu)

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