ClinVar Miner

List of variants studied for Singleton-Merten syndrome 1 by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp) rs147278787
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517

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