ClinVar Miner

List of variants studied for Singleton-Merten syndrome 1

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Total variants: 19
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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.2836G>A (p.Ala946Thr) rs1990760 0.44895
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00331
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.2016del (p.Asp673fs) rs773033563 0.00010
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.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp) rs763549486 0.00001
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.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
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_022168.4(IFIH1):c.770-10T>C rs1683038128

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