List of variants reported as pathogenic for Schimke immuno-osseous dysplasia by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 102

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HGVS	dbSNP	gnomAD frequency
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)	rs119473033	0.00013
NM_014140.4(SMARCAL1):c.2070+2dup	rs762716070	0.00009
NM_014140.4(SMARCAL1):c.1190del (p.Leu397fs)	rs766291662	0.00006
NM_014140.4(SMARCAL1):c.863-2A>G	rs761546902	0.00004
NM_014140.4(SMARCAL1):c.2291G>A (p.Arg764Gln)	rs267607071	0.00002
NM_014140.4(SMARCAL1):c.2459G>A (p.Arg820His)	rs200666300	0.00002
NM_014140.4(SMARCAL1):c.1191del (p.Thr399fs)	rs956223874	0.00001
NM_014140.4(SMARCAL1):c.1727del (p.Ile576fs)	rs1265248594	0.00001
NM_014140.4(SMARCAL1):c.1859G>A (p.Trp620Ter)	rs1294139623	0.00001
NM_014140.4(SMARCAL1):c.1931G>A (p.Arg644Gln)	rs140515579	0.00001
NM_014140.4(SMARCAL1):c.1933C>T (p.Arg645Cys)	rs119473037	0.00001
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His)	rs1281345070	0.00001
NM_014140.4(SMARCAL1):c.409C>T (p.Gln137Ter)	rs1271242899	0.00001
NM_014140.4(SMARCAL1):c.415_416del (p.Leu139fs)	rs781023326	0.00001
NM_014140.4(SMARCAL1):c.445C>T (p.Gln149Ter)	rs1264577481	0.00001
NM_014140.4(SMARCAL1):c.49C>T (p.Arg17Ter)	rs119473034	0.00001
NC_000002.11:g.(?_217279428)_(217281050_?)del
NC_000002.11:g.(?_217311721)_(217347700_?)del
NC_000002.11:g.(?_217339972)_(217343042_?)del
NC_000002.11:g.(?_217339982)_(217340184_?)del
NC_000002.11:g.(?_217341812)_(217341952_?)del
NC_000002.12:g.(?_216414695)_(216416317_?)del
NM_014140.4(SMARCAL1):c.1000C>T (p.Arg334Ter)	rs758888999
NM_014140.4(SMARCAL1):c.100C>T (p.Gln34Ter)	rs119473035
NM_014140.4(SMARCAL1):c.1051C>T (p.Gln351Ter)
NM_014140.4(SMARCAL1):c.1071del (p.Phe357fs)
NM_014140.4(SMARCAL1):c.1097_1098del (p.Asp366fs)
NM_014140.4(SMARCAL1):c.1169del (p.Pro390fs)
NM_014140.4(SMARCAL1):c.1189_1190dup (p.Pro398fs)
NM_014140.4(SMARCAL1):c.1210del (p.Ala404fs)	rs1693893975
NM_014140.4(SMARCAL1):c.1222C>T (p.Gln408Ter)	rs2106029186
NM_014140.4(SMARCAL1):c.1224dup (p.Leu409fs)
NM_014140.4(SMARCAL1):c.1248dup (p.Thr417fs)	rs535448005
NM_014140.4(SMARCAL1):c.1263dup (p.Glu422fs)	rs2106029249
NM_014140.4(SMARCAL1):c.126dup (p.Ala43fs)
NM_014140.4(SMARCAL1):c.1399C>T (p.Gln467Ter)	rs2106033603
NM_014140.4(SMARCAL1):c.1426del (p.Arg476fs)	rs750721291
NM_014140.4(SMARCAL1):c.1437dup (p.Pro480fs)	rs758672665
NM_014140.4(SMARCAL1):c.1499G>A (p.Trp500Ter)	rs1694058443
NM_014140.4(SMARCAL1):c.1503del (p.Pro502fs)	rs1694058662
NM_014140.4(SMARCAL1):c.1517del (p.Pro506fs)	rs1226835488
NM_014140.4(SMARCAL1):c.1544_1569del (p.Gly515fs)	rs1694059874
NM_014140.4(SMARCAL1):c.1611del (p.Lys537fs)
NM_014140.4(SMARCAL1):c.1612C>T (p.Gln538Ter)	rs571627974
NM_014140.4(SMARCAL1):c.1625del (p.Pro542fs)	rs2106037172
NM_014140.4(SMARCAL1):c.1632del (p.Val545fs)	rs2106037184
NM_014140.4(SMARCAL1):c.1682G>A (p.Arg561His)
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter)	rs1694125419
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)	rs1694331040
NM_014140.4(SMARCAL1):c.1777C>T (p.Gln593Ter)
NM_014140.4(SMARCAL1):c.1810dup (p.Gln604fs)	rs1559130635
NM_014140.4(SMARCAL1):c.1831del (p.Arg611fs)
NM_014140.4(SMARCAL1):c.1836C>A (p.Tyr612Ter)
NM_014140.4(SMARCAL1):c.1860G>A (p.Trp620Ter)
NM_014140.4(SMARCAL1):c.1866G>A (p.Trp622Ter)
NM_014140.4(SMARCAL1):c.1874C>G (p.Ser625Ter)
NM_014140.4(SMARCAL1):c.1881del (p.Ser628fs)
NM_014140.4(SMARCAL1):c.1921dup (p.Val641fs)	rs1694436267
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)	rs1313658611
NM_014140.4(SMARCAL1):c.1934_1935del (p.Arg645fs)	rs1694436631
NM_014140.4(SMARCAL1):c.1936dup (p.Leu646fs)
NM_014140.4(SMARCAL1):c.1945_1951del (p.Asp649fs)
NM_014140.4(SMARCAL1):c.2020A>T (p.Arg674Ter)
NM_014140.4(SMARCAL1):c.2077C>T (p.Gln693Ter)
NM_014140.4(SMARCAL1):c.2128dup (p.Ile710fs)
NM_014140.4(SMARCAL1):c.2141+5G>A	rs2106073127
NM_014140.4(SMARCAL1):c.2200_2212del (p.His734fs)
NM_014140.4(SMARCAL1):c.2308C>T (p.Gln770Ter)
NM_014140.4(SMARCAL1):c.230_237del (p.Ser77fs)
NM_014140.4(SMARCAL1):c.2321C>A (p.Ser774Ter)	rs149425324
NM_014140.4(SMARCAL1):c.2392del (p.Leu798fs)
NM_014140.4(SMARCAL1):c.2424del (p.Val810fs)	rs2106086566
NM_014140.4(SMARCAL1):c.2507del (p.Gly836fs)	rs2106088642
NM_014140.4(SMARCAL1):c.250dup (p.Gln84fs)	rs1693554666
NM_014140.4(SMARCAL1):c.2528+1G>A
NM_014140.4(SMARCAL1):c.2529G>A (p.Trp843Ter)
NM_014140.4(SMARCAL1):c.2538dup (p.Gln847fs)
NM_014140.4(SMARCAL1):c.261del (p.His87fs)
NM_014140.4(SMARCAL1):c.270_271del (p.His90fs)	rs1574443133
NM_014140.4(SMARCAL1):c.334_340dup (p.Arg114fs)	rs1693556617
NM_014140.4(SMARCAL1):c.369_370del (p.Pro124fs)	rs1574443257
NM_014140.4(SMARCAL1):c.382C>T (p.Gln128Ter)
NM_014140.4(SMARCAL1):c.416T>A (p.Leu139Ter)	rs2106014776
NM_014140.4(SMARCAL1):c.426del (p.Glu142fs)
NM_014140.4(SMARCAL1):c.427_430del (p.Leu143fs)
NM_014140.4(SMARCAL1):c.429_430insTGATTTA (p.Gly144Ter)
NM_014140.4(SMARCAL1):c.498del (p.Leu167fs)
NM_014140.4(SMARCAL1):c.530del (p.Pro177fs)
NM_014140.4(SMARCAL1):c.580_583dup (p.Ala195fs)
NM_014140.4(SMARCAL1):c.588dup (p.Ala197fs)
NM_014140.4(SMARCAL1):c.609del (p.Asn203fs)	rs2106015063
NM_014140.4(SMARCAL1):c.622del (p.His208fs)	rs751582760
NM_014140.4(SMARCAL1):c.641dup (p.Thr215fs)	rs2106015104
NM_014140.4(SMARCAL1):c.667C>T (p.Gln223Ter)
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter)	rs748106387
NM_014140.4(SMARCAL1):c.769G>T (p.Glu257Ter)
NM_014140.4(SMARCAL1):c.786dup (p.Lys263Ter)	rs1693577284
NM_014140.4(SMARCAL1):c.837del (p.Phe279fs)
NM_014140.4(SMARCAL1):c.888_889del (p.Val297fs)
NM_014140.4(SMARCAL1):c.907G>T (p.Glu303Ter)
NM_014140.4(SMARCAL1):c.955C>T (p.Gln319Ter)
NM_014140.4(SMARCAL1):c.986C>A (p.Ser329Ter)

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