ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00331
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00010
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp) rs147278787
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr) rs1576222807

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