ClinVar Miner

List of variants studied for MIRAGE syndrome

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_017654.4(SAMD9):c.1347T>C (p.Asn449=) rs150107667 0.00542
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser) rs146087534 0.00091
NM_017654.4(SAMD9):c.2686T>C (p.Tyr896His) rs142611434 0.00090
NM_017654.4(SAMD9):c.1860A>G (p.Lys620=) rs77922936 0.00078
NM_017654.4(SAMD9):c.1058C>T (p.Thr353Met) rs138478808 0.00034
NM_017654.4(SAMD9):c.1880del (p.Ser627fs) rs767270627 0.00023
NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val) rs376829052 0.00018
NM_017654.4(SAMD9):c.3649T>C (p.Phe1217Leu) rs183833462 0.00009
NM_017654.4(SAMD9):c.2053C>T (p.Arg685Ter) rs763070754 0.00006
NM_017654.4(SAMD9):c.2071T>C (p.Trp691Arg) rs756922616 0.00004
NM_017654.4(SAMD9):c.3525T>G (p.Tyr1175Ter) rs751811624 0.00002
NM_017654.4(SAMD9):c.3725C>T (p.Pro1242Leu) rs201492733 0.00002
NM_017654.4(SAMD9):c.229A>G (p.Thr77Ala) rs74650267 0.00001
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys) rs1247438528 0.00001
NM_017654.4(SAMD9):c.2960T>C (p.Leu987Ser) rs1290938428 0.00001
NM_017654.4(SAMD9):c.3322C>T (p.Gln1108Ter) rs1409346812 0.00001
NM_017654.4(SAMD9):c.893C>T (p.Thr298Ile) rs200135790 0.00001
NM_017654.4(SAMD9):c.1052A>G (p.Asp351Gly) rs757652918
NM_017654.4(SAMD9):c.1252A>G (p.Asn418Asp) rs1455883160
NM_017654.4(SAMD9):c.1253A>G (p.Asn418Ser)
NM_017654.4(SAMD9):c.1310T>G (p.Phe437Cys) rs1791602240
NM_017654.4(SAMD9):c.1376G>A (p.Arg459Gln) rs1584254152
NM_017654.4(SAMD9):c.1812A>G (p.Gln604=) rs181767582
NM_017654.4(SAMD9):c.200T>G (p.Ile67Arg)
NM_017654.4(SAMD9):c.2054G>A (p.Arg685Gln) rs1064795431
NM_017654.4(SAMD9):c.2159del (p.Asn720fs) rs753146043
NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr) rs778749748
NM_017654.4(SAMD9):c.2247C>A (p.His749Gln) rs1584253388
NM_017654.4(SAMD9):c.2305G>A (p.Asp769Asn) rs1584253343
NM_017654.4(SAMD9):c.2414A>G (p.Asp805Gly)
NM_017654.4(SAMD9):c.2471G>A (p.Arg824Gln) rs1435946172
NM_017654.4(SAMD9):c.2603A>C (p.Lys868Thr)
NM_017654.4(SAMD9):c.2645T>G (p.Phe882Cys)
NM_017654.4(SAMD9):c.2795C>T (p.Thr932Ile) rs1791570014
NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys) rs1554336981
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_017654.4(SAMD9):c.29del (p.Asn10fs) rs1356051307
NM_017654.4(SAMD9):c.3548C>T (p.Pro1183Leu)
NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter) rs199887936
NM_017654.4(SAMD9):c.3728_3731del (p.Asn1243fs) rs778111446
NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp) rs1584251938
NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln) rs1791543423
NM_017654.4(SAMD9):c.4413G>A (p.Met1471Ile) rs978197631
NM_017654.4(SAMD9):c.4690G>A (p.Gly1564Ser)
NM_017654.4(SAMD9):c.542T>G (p.Leu181Arg) rs2116422419
NM_017654.4(SAMD9):c.843G>C (p.Lys281Asn) rs1791615248
NM_017654.4(SAMD9):c.976del (p.Gln326fs)
NM_017654.4(SAMD9):c.984C>A (p.Tyr328Ter) rs2116421055

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