ClinVar Miner

List of variants reported as uncertain significance for Singleton-Merten syndrome 1

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087 0.00025
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986 0.00011
NM_022168.4(IFIH1):c.2962G>T (p.Val988Leu) rs74162090 0.00010
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser) rs374205118 0.00009
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp) rs763549486 0.00001
NM_022168.4(IFIH1):c.*7del
NM_022168.4(IFIH1):c.1357G>A (p.Val453Met) rs367921237
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.770-10T>C rs1683038128

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