List of variants studied for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu)	rs750582696	0.00001
NM_000165.5(GJA1):c.436_441del (p.Lys146_Met147del)	rs2114283487
NM_001365902.3(NFIX):c.1459del (p.Asp487fs)
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln)	rs2145192570
NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)
NM_003106.4(SOX2):c.70_89dup (p.Gly31fs)
NM_006767.4(LZTR1):c.271A>G (p.Met91Val)	rs1135401945
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	rs869320686
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp)	rs1555370121
NM_006939.4(SOS2):c.496A>G (p.Met166Val)	rs1555322175
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter)	rs1131692325
NM_017780.4(CHD7):c.8076+1G>C	rs1563671108
NM_021224.6(ZNF462):c.3937del (p.His1313fs)
NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter)	rs1131692328
NM_022455.5(NSD1):c.2613del (p.Ser871_Leu872insTer)	rs1581321541
NM_022455.5(NSD1):c.4766-2A>C
NM_022455.5(NSD1):c.5289A>T (p.Lys1763Asn)	rs1135401952
NM_022455.5(NSD1):c.6179T>A (p.Leu2060Gln)

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