List of variants in gene KIF7 reported as likely pathogenic for Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_198525.3(KIF7):c.1443+2T>C	rs751900799	0.00004
NM_198525.3(KIF7):c.328+2T>G	rs781752990	0.00004
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)	rs794727316	0.00003
NM_198525.3(KIF7):c.1789-2A>G	rs989653101	0.00002
NM_198525.3(KIF7):c.3235C>T (p.Gln1079Ter)	rs1963646325	0.00001
NM_198525.3(KIF7):c.350_353dup (p.Ile119fs)	rs1379956683	0.00001
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)	rs1235928535	0.00001
NM_198525.3(KIF7):c.1149dup (p.Ile384fs)	rs2142028862
NM_198525.3(KIF7):c.1248del (p.Asp417fs)	rs1253153154
NM_198525.3(KIF7):c.1295_1307dup (p.Lys439fs)
NM_198525.3(KIF7):c.1703del (p.Leu568fs)
NM_198525.3(KIF7):c.2515C>T (p.Gln839Ter)
NM_198525.3(KIF7):c.2618del (p.Gln873fs)
NM_198525.3(KIF7):c.2718+1G>A
NM_198525.3(KIF7):c.2758G>T (p.Glu920Ter)
NM_198525.3(KIF7):c.2869G>T (p.Glu957Ter)
NM_198525.3(KIF7):c.3195C>A (p.Cys1065Ter)
NM_198525.3(KIF7):c.3838_3886del (p.Ser1280fs)
NM_198525.3(KIF7):c.719_720insT (p.Gln242fs)
NM_198525.3(KIF7):c.923+2T>G

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