ClinVar Miner

List of variants in gene ARHGAP35 reported as likely pathogenic for Martsolf syndrome 1

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004491.5(ARHGAP35):c.325C>T (p.Arg109Ter) rs1324454897 0.00001
NM_004491.5(ARHGAP35):c.1800_1803del (p.Val601fs) rs2514159829
NM_004491.5(ARHGAP35):c.2565C>A (p.Tyr855Ter) rs188397648
NM_004491.5(ARHGAP35):c.3283_3286delinsT (p.Val1095_Lys1096delinsTer) rs2514162911
NM_004491.5(ARHGAP35):c.345del (p.Tyr116fs) rs2514156770
NM_004491.5(ARHGAP35):c.352A>T (p.Lys118Ter) rs2514156784
NM_004491.5(ARHGAP35):c.3569_3570del (p.Glu1190fs) rs2514163537
NM_004491.5(ARHGAP35):c.3850C>T (p.Arg1284Trp) rs2122336841
NM_004491.5(ARHGAP35):c.516del (p.Asn173fs) rs2514157003

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