ClinVar Miner

List of variants in gene DYSF reported as likely benign for Dysferlinopathy

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Gene type:
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Total variants: 54
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HGVS dbSNP
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305
NM_001130987.2(DYSF):c.1458C>T (p.Ser486=) rs200803090
NM_001130987.2(DYSF):c.1737G>A (p.Glu579=) rs370872013
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897
NM_001130987.2(DYSF):c.1939C>T (p.Leu647=) rs768043804
NM_001130987.2(DYSF):c.2007C>G (p.Pro669=) rs1553544209
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.2166C>T (p.Asp722=) rs766639423
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283
NM_001130987.2(DYSF):c.2427G>A (p.Pro809=) rs139422989
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920
NM_001130987.2(DYSF):c.2673G>A (p.Gly891=) rs530181166
NM_001130987.2(DYSF):c.2864+8G>A rs371686795
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=) rs143775913
NM_001130987.2(DYSF):c.2901C>T (p.Phe967=) rs767589708
NM_001130987.2(DYSF):c.3000C>A (p.Pro1000=) rs368460619
NM_001130987.2(DYSF):c.3024G>A (p.Leu1008=) rs1553555439
NM_001130987.2(DYSF):c.3126G>A (p.Pro1042=) rs377235191
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys) rs147483765
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.3696G>A (p.Pro1232=) rs139364929
NM_001130987.2(DYSF):c.3795G>A (p.Pro1265=) rs922788254
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399
NM_001130987.2(DYSF):c.397C>T (p.Leu133=) rs886043009
NM_001130987.2(DYSF):c.4050C>T (p.Thr1350=) rs138751942
NM_001130987.2(DYSF):c.4059+8G>A rs770831705
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880
NM_001130987.2(DYSF):c.4222-6A>T rs745775405
NM_001130987.2(DYSF):c.4242C>T (p.Leu1414=) rs952978128
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942
NM_001130987.2(DYSF):c.4387+16_4387+42del rs750290973
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=) rs61746816
NM_001130987.2(DYSF):c.4419C>T (p.Asp1473=) rs374705038
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266
NM_001130987.2(DYSF):c.4671G>A (p.Leu1557=) rs749333686
NM_001130987.2(DYSF):c.4713G>A (p.Thr1571=) rs369750372
NM_001130987.2(DYSF):c.4756-3C>T rs371227553
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116
NM_001130987.2(DYSF):c.5106C>T (p.Val1702=) rs778238756
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001130987.2(DYSF):c.5784+10C>T rs758268866
NM_001130987.2(DYSF):c.6070C>T (p.Leu2024=) rs775417000
NM_001130987.2(DYSF):c.6174-9C>T rs201070766
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078

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