ClinVar Miner

List of variants in gene DYSF reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 34
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HGVS dbSNP
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.127G>A (p.Val43Met) rs374203339
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764
NM_001130987.2(DYSF):c.1577-1664C>T
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys) rs767415886
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val) rs146261069
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.2104C>T (p.Arg702Trp) rs148652047
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val) rs145007061
NM_001130987.2(DYSF):c.2216+9dup rs760948624
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr) rs759171890
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser)
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys) rs752810646
NM_001130987.2(DYSF):c.3311C>T (p.Thr1104Ile) rs1553361773
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014
NM_001130987.2(DYSF):c.4060-7T>A
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly) rs1558750109
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys) rs545645581
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser)
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly) rs773799968
NM_001130987.2(DYSF):c.6174-9C>T rs201070766
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln) rs140002194

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