ClinVar Miner

List of variants in gene SBDS studied for Shwachman-Diamond syndrome 1

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Total variants: 24
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NM_016038.2(SBDS):c.183_184delTAinsCT (p.Lys62Ter) rs113993991
NM_016038.4(SBDS):c.120del (p.Ser41fs) rs113993990
NM_016038.4(SBDS):c.131A>G (p.Glu44Gly) rs1554341516
NM_016038.4(SBDS):c.141C>T (p.Leu47=) rs113993989
NM_016038.4(SBDS):c.167T>C (p.Val56Ala) rs1584437592
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter) rs120074160
NM_016038.4(SBDS):c.18del (p.Thr7fs) rs1584439050
NM_016038.4(SBDS):c.199A>G (p.Lys67Glu) rs1554341499
NM_016038.4(SBDS):c.201A>G (p.Lys67=) rs1061695
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016038.4(SBDS):c.258+1G>C rs113993992
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016038.4(SBDS):c.260T>G (p.Ile87Ser) rs1554341363
NM_016038.4(SBDS):c.293_296AAGA[1] (p.Glu99fs) rs113993994
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr) rs113993995
NM_016038.4(SBDS):c.388G>A (p.Val130Met) rs201070132
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys) rs113993996
NM_016038.4(SBDS):c.624+1G>C rs113993997
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016038.4(SBDS):c.651C>T (p.Phe217=) rs73151675
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800

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