ClinVar Miner

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

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Gene type:
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Total variants: 22
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HGVS dbSNP
NM_001130987.2(DYSF):c.1149+1G>A rs398123763
NM_001130987.2(DYSF):c.1263_1276+1dup rs863225019
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter) rs202044973
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu) rs886044537
NM_001130987.2(DYSF):c.1577-1692G>A rs398123770
NM_001130987.2(DYSF):c.167dup (p.Ile58fs) rs863225020
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp) rs377735262
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter) rs1553543506
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter) rs746873768
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter) rs369607332
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter) rs886042091
NM_001130987.2(DYSF):c.356del (p.Val119fs) rs398123782
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter) rs727503912
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter) rs121908959
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs) rs398123797
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs) rs398123799
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter) rs373585652
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.3516_3517delTT rs766341386
NM_003494.4(DYSF):c.3517dup (p.Ser1173fs) rs766341386

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