ClinVar Miner

List of variants studied for Noonan syndrome 4 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00014
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026 0.00007
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr) rs557328600 0.00005
NM_005633.4(SOS1):c.3350A>G (p.Asn1117Ser) rs754314057 0.00004
NM_005633.4(SOS1):c.1750G>A (p.Glu584Lys) rs771878514 0.00002
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr) rs142094234 0.00002
NM_005633.4(SOS1):c.1674G>A (p.Met558Ile) rs753055115 0.00001
NM_005633.4(SOS1):c.2973T>G (p.Phe991Leu) rs751274973 0.00001
NM_005633.4(SOS1):c.3317A>G (p.Asp1106Gly) rs1406906239 0.00001
NM_005633.4(SOS1):c.3707C>T (p.Pro1236Leu) rs533661246 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 0.00001
NM_005633.4(SOS1):c.800T>C (p.Val267Ala) rs748234666 0.00001
NC_000002.11:g.39263079_(39347604_?)dup
NM_005633.4(SOS1):c.1698G>C (p.Gln566His) rs1313575751
NM_005633.4(SOS1):c.2153T>C (p.Ile718Thr) rs1040115639
NM_005633.4(SOS1):c.3241A>C (p.Asn1081His)
NM_005633.4(SOS1):c.3391+3_3391+6del rs756201866
NM_005633.4(SOS1):c.3485C>T (p.Ala1162Val) rs1022820895
NM_005633.4(SOS1):c.3793_3795del (p.Ser1265del)
NM_005633.4(SOS1):c.720+1G>A rs2465346587

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