List of variants reported as pathogenic for not provided by Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)	rs1553196096
NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)	rs1553196101
NM_001791.4(CDC42):c.476C>T (p.Ala159Val)	rs1553196134
NM_013245.3(VPS4A):c.616G>A (p.Glu206Lys)	rs1965484443
NM_013245.3(VPS4A):c.850A>G (p.Arg284Gly)	rs1965499910
NM_013245.3(VPS4A):c.850A>T (p.Arg284Trp)	rs1965499910
NM_015001.3(SPEN):c.10909_10910del (p.His3638fs)	rs972442854
NM_015001.3(SPEN):c.10953dup (p.Asn3652fs)	rs2148746207
NM_015001.3(SPEN):c.1603C>T (p.Arg535Ter)	rs2148733237
NM_015001.3(SPEN):c.2014C>T (p.Arg672Ter)	rs2148737783
NM_015001.3(SPEN):c.2101G>T (p.Glu701Ter)	rs2148737840
NM_015001.3(SPEN):c.2269_2272dup (p.Arg758fs)	rs2148737960
NM_015001.3(SPEN):c.2956_2959dup (p.Arg987fs)	rs2148738489
NM_015001.3(SPEN):c.3029dup (p.Asp1011fs)	rs2148738538
NM_015001.3(SPEN):c.3199C>T (p.Gln1067Ter)	rs2148738629
NM_015001.3(SPEN):c.3508C>T (p.Arg1170Ter)	rs2071203144
NM_015001.3(SPEN):c.3793C>T (p.Arg1265Ter)	rs2071205857
NM_015001.3(SPEN):c.5013_5017del (p.Glu1671fs)	rs746738922
NM_015001.3(SPEN):c.5392C>T (p.Gln1798Ter)	rs2148740239
NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	rs2071226510
NM_015001.3(SPEN):c.6058C>T (p.Gln2020Ter)	rs752207572
NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)	rs2148740878
NM_015001.3(SPEN):c.6223_6227del (p.Ser2075fs)	rs2148741007
NM_015001.3(SPEN):c.6226_6227del (p.Lys2076fs)	rs2148741011
NM_015001.3(SPEN):c.6570dup (p.Lys2191Ter)	rs2148741262
NM_015001.3(SPEN):c.6641_6642del (p.Glu2214fs)	rs2071236139
NM_015001.3(SPEN):c.6799G>T (p.Glu2267Ter)	rs754293393
NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs)	rs2071239657
NM_015001.3(SPEN):c.7024C>T (p.Arg2342Ter)	rs2148741614
NM_015001.3(SPEN):c.7324G>T (p.Glu2442Ter)	rs2148741876
NM_015001.3(SPEN):c.7328del (p.Glu2443fs)	rs2148741878
NM_015001.3(SPEN):c.7338_7339dup (p.Arg2447fs)	rs2148741888
NM_015001.3(SPEN):c.7373del (p.Pro2458fs)	rs2148741910
NM_015001.3(SPEN):c.7374_7381del (p.Val2459fs)	rs2148741907
NM_015001.3(SPEN):c.7492del (p.Lys2497_Val2498insTer)	rs2148742008
NM_015001.3(SPEN):c.9950dup (p.Ala3318fs)	rs755758948

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