ClinVar Miner

List of variants in gene SKI studied for not provided

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Gene type:
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Total variants: 85
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HGVS dbSNP
NM_003036.4(SKI):c.-11C>G
NM_003036.4(SKI):c.-46C>T
NM_003036.4(SKI):c.1000C>T (p.Pro334Ser) rs775433131
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003036.4(SKI):c.1025A>G (p.Gln342Arg) rs377336741
NM_003036.4(SKI):c.1039del (p.Ser347fs) rs1553200666
NM_003036.4(SKI):c.1098C>G (p.Ser366Arg) rs1553200726
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528
NM_003036.4(SKI):c.1124G>A (p.Arg375His) rs762209697
NM_003036.4(SKI):c.1139G>A (p.Arg380Gln) rs760033804
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr) rs376736872
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.1183C>T (p.Pro395Ser) rs773512836
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.4(SKI):c.11C>T (p.Ala4Val) rs1085307767
NM_003036.4(SKI):c.1211+173C>T
NM_003036.4(SKI):c.1211+64C>T
NM_003036.4(SKI):c.1212-8C>T rs370921440
NM_003036.4(SKI):c.1247C>T (p.Ala416Val) rs775044622
NM_003036.4(SKI):c.1264G>A (p.Ala422Thr) rs760579911
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu) rs764317955
NM_003036.4(SKI):c.1294A>G (p.Ser432Gly) rs368739670
NM_003036.4(SKI):c.1301C>T (p.Pro434Leu) rs768068601
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1336C>T (p.Leu446Phe)
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala) rs199797772
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728
NM_003036.4(SKI):c.1421C>T (p.Pro474Leu) rs1553200918
NM_003036.4(SKI):c.1425G>A (p.Glu475=)
NM_003036.4(SKI):c.142A>C (p.Lys48Gln) rs946543006
NM_003036.4(SKI):c.1445C>T (p.Ala482Val) rs372475723
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135
NM_003036.4(SKI):c.1447del (p.Glu483fs) rs1553200934
NM_003036.4(SKI):c.1475-60C>T
NM_003036.4(SKI):c.1475-70G>A
NM_003036.4(SKI):c.1505C>T (p.Pro502Leu) rs1057520161
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632
NM_003036.4(SKI):c.1555C>T (p.Arg519Cys) rs775800782
NM_003036.4(SKI):c.1556G>A (p.Arg519His) rs376322470
NM_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299
NM_003036.4(SKI):c.1581_1583TGC[1] (p.Ala530del) rs863223725
NM_003036.4(SKI):c.15_24dup (p.Gly9fs) rs1553189805
NM_003036.4(SKI):c.1619C>T (p.Ala540Val) rs764786977
NM_003036.4(SKI):c.1700T>C (p.Val567Ala) rs887731777
NM_003036.4(SKI):c.1739C>T (p.Ala580Val) rs1397350089
NM_003036.4(SKI):c.1767+37C>T
NM_003036.4(SKI):c.1768-307T>G
NM_003036.4(SKI):c.1786G>T (p.Val596Leu) rs774196267
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811
NM_003036.4(SKI):c.1871_1873AGA[2] (p.Lys626del) rs863223726
NM_003036.4(SKI):c.1877A>T (p.Lys626Met) rs774106502
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003036.4(SKI):c.1950C>A (p.Cys650Ter) rs113979182
NM_003036.4(SKI):c.1968G>T (p.Ala656=) rs754572866
NM_003036.4(SKI):c.1976T>G (p.Leu659Arg) rs1421285699
NM_003036.4(SKI):c.1994C>T (p.Ala665Val) rs1557854261
NM_003036.4(SKI):c.1998+63T>C
NM_003036.4(SKI):c.1999-43A>G
NM_003036.4(SKI):c.2013G>A (p.Gln671=) rs1040803635
NM_003036.4(SKI):c.2056G>A (p.Ala686Thr) rs756553942
NM_003036.4(SKI):c.2128T>C (p.Trp710Arg) rs863223728
NM_003036.4(SKI):c.2140C>T (p.Arg714Cys) rs1361712039
NM_003036.4(SKI):c.2154G>T (p.Ala718=)
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala) rs747798210
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890
NM_003036.4(SKI):c.349G>C (p.Gly117Arg) rs869312901
NM_003036.4(SKI):c.42C>T (p.His14=) rs543603037
NM_003036.4(SKI):c.437_439dup (p.Leu146dup) rs1553189926
NM_003036.4(SKI):c.499_500delinsGG (p.Leu167Gly) rs863223724
NM_003036.4(SKI):c.511G>A (p.Ala171Thr) rs762117658
NM_003036.4(SKI):c.539C>T (p.Thr180Met) rs863223722
NM_003036.4(SKI):c.736C>T (p.Gln246Ter) rs1064796874
NM_003036.4(SKI):c.796_797delinsT (p.Ala266fs) rs1553190048
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.4(SKI):c.845G>A (p.Arg282Gln) rs1057524781
NM_003036.4(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003036.4(SKI):c.915C>G (p.Asp305Glu) rs900879745
NM_003036.4(SKI):c.919G>A (p.Val307Met) rs775192483
NM_003036.4(SKI):c.938A>G (p.Tyr313Cys) rs767730615
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.4(SKI):c.969+316C>T
NM_003036.4(SKI):c.970-166A>G
NM_003036.4(SKI):c.970-7A>G rs199634070
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352

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