ClinVar Miner

List of variants studied for CHILD syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu) rs139186585 0.00143
NM_015922.3(NSDHL):c.306C>T (p.Phe102=) rs141089248 0.00138
NM_015922.3(NSDHL):c.834C>T (p.Phe278=) rs149698967 0.00057
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) rs138711934 0.00045
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00044
NM_015922.3(NSDHL):c.987C>T (p.Val329=) rs149122192 0.00017
NM_015922.3(NSDHL):c.263G>A (p.Arg88Gln) rs781879080 0.00002
NM_015922.3(NSDHL):c.560A>G (p.Asn187Ser) rs782332983 0.00002
NM_015922.3(NSDHL):c.790-9T>A rs1323999679 0.00002
NM_015922.3(NSDHL):c.947C>G (p.Pro316Arg) rs782141957 0.00002
NM_015922.3(NSDHL):c.265C>G (p.Gln89Glu) rs145580873 0.00001
NM_015922.3(NSDHL):c.565C>T (p.Pro189Ser) rs782376691 0.00001
NM_015922.3(NSDHL):c.612C>T (p.Phe204=) rs782252634 0.00001
NM_015922.3(NSDHL):c.1031A>G (p.Lys344Arg) rs2125017628
NM_015922.3(NSDHL):c.1037C>G (p.Ala346Gly) rs782563536
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.1100G>A (p.Arg367His)
NM_015922.3(NSDHL):c.1118A>G (p.Lys373Arg) rs1933665377
NM_015922.3(NSDHL):c.19G>A (p.Glu7Lys)
NM_015922.3(NSDHL):c.268-15dup rs782031217
NM_015922.3(NSDHL):c.273G>C (p.Leu91=)
NM_015922.3(NSDHL):c.529A>G (p.Ile177Val)
NM_015922.3(NSDHL):c.656C>T (p.Ala219Val)
NM_015922.3(NSDHL):c.691G>A (p.Gly231Arg)
NM_015922.3(NSDHL):c.74T>C (p.Val25Ala)
NM_015922.3(NSDHL):c.754G>C (p.Glu252Gln)
NM_015922.3(NSDHL):c.770A>G (p.Asp257Gly)
NM_015922.3(NSDHL):c.780G>A (p.Leu260=)
NM_015922.3(NSDHL):c.830C>G (p.Thr277Arg)
NM_015922.3(NSDHL):c.842G>T (p.Arg281Leu)
NM_015922.3(NSDHL):c.847C>G (p.Leu283Val)

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