ClinVar Miner

List of variants studied for Martsolf syndrome 2

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_012233.3(RAB3GAP1):c.2607-1G>C rs2105001159
NM_012233.3(RAB3GAP1):c.2709+1G>T
NM_012233.3(RAB3GAP1):c.536G>C (p.Gly179Ala)
NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs) rs1553437083

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