ClinVar Miner

List of variants reported as likely pathogenic for MIRAGE syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys) rs1247438528 0.00001
NM_017654.4(SAMD9):c.1310T>G (p.Phe437Cys) rs1791602240
NM_017654.4(SAMD9):c.2159del (p.Asn720fs) rs753146043
NM_017654.4(SAMD9):c.2247C>A (p.His749Gln) rs1584253388
NM_017654.4(SAMD9):c.2414A>G (p.Asp805Gly)
NM_017654.4(SAMD9):c.2603A>C (p.Lys868Thr)
NM_017654.4(SAMD9):c.2795C>T (p.Thr932Ile) rs1791570014
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His) rs1554336974
NM_017654.4(SAMD9):c.4690G>A (p.Gly1564Ser)
NM_017654.4(SAMD9):c.976del (p.Gln326fs)

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