ClinVar Miner

List of variants in gene SOS1 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.2165G>A (p.Arg722Lys) rs142666652 0.00010
NM_005633.4(SOS1):c.1075-16C>T rs112540686 0.00001
NM_005633.4(SOS1):c.2344A>G (p.Ile782Val) rs778580742 0.00001
NM_005633.4(SOS1):c.2489A>G (p.Asn830Ser) rs397517158 0.00001
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile) rs1553356023
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.4(SOS1):c.511-6_511-5del rs1671149258

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