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 (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00113
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540 0.00076
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322 0.00006
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493 0.00002
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655 0.00002
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829 0.00001
NM_022168.4(IFIH1):c.1992G>T (p.Lys664Asn) rs2105197453
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529

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