ClinVar Miner

List of variants reported as uncertain significance for Singleton-Merten syndrome 1 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075

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