List of variants reported as pathogenic for chromosomal disorder by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001134673.4(NFIA):c.28-2A>G	rs1646253231
NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs)	rs1574532220
NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter)	rs1357010510
NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs)	rs1574566833
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs)	rs1557047954
NM_001378120.1(MBD5):c.397+2T>C
NM_002397.5(MEF2C):c.638-2A>C	rs1554102556
NM_022455.5(NSD1):c.2289_2317dup (p.Ala773delinsValArgThrArgTer)	rs1581319867
NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter)	rs1006906224
NM_022455.5(NSD1):c.4766-2A>G	rs1581457332
NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)
NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs)	rs1598088235
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)	rs762292772
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter)	rs1563819620
NM_078480.3(PUF60):c.712_713del (p.Ser238fs)	rs1816555365

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