List of variants studied for Microcephaly 7, primary, autosomal recessive by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly)	rs140448154	0.01146
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe)	rs149185431	0.00258
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)	rs149697952	0.00111
NM_001048166.1(STIL):c.467A>G (p.His156Arg)	rs141352790	0.00038
NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu)	rs144586803	0.00022
NM_001048166.1(STIL):c.1893T>G (p.Asp631Glu)	rs373048037	0.00014
NM_001048166.1(STIL):c.2132C>T (p.Ser711Leu)	rs201448287	0.00004
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)	rs770213403	0.00004
NM_001048166.1(STIL):c.3494T>C (p.Leu1165Pro)	rs780930663	0.00002
NM_001048166.1(STIL):c.1700C>T (p.Pro567Leu)	rs754626458	0.00001
NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del)	rs587784448

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