List of variants in gene KIF7 reported as likely pathogenic

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: 22

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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.1561-1G>A	rs763238645	0.00001
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)	rs758361736	0.00001
NC_000015.9:g.(90193173_90195833)_(90198683_?)del
NC_000015.9:g.(?_90171650)_(90177134_?)del
NC_000015.9:g.(?_90173498)_(90188702_?)dup
NM_198525.3(KIF7):c.1789-2A>G
NM_198525.3(KIF7):c.2059C>T (p.Arg687Ter)	rs138736028
NM_198525.3(KIF7):c.2192-1G>A	rs1424230161
NM_198525.3(KIF7):c.2272G>T (p.Glu758Ter)
NM_198525.3(KIF7):c.2286_2287insT (p.Gln763fs)	rs1963937785
NM_198525.3(KIF7):c.2503C>T (p.Gln835Ter)	rs1567060070
NM_198525.3(KIF7):c.2895+1G>C
NM_198525.3(KIF7):c.3016del (p.Glu1006fs)
NM_198525.3(KIF7):c.329-1G>C
NM_198525.3(KIF7):c.3309T>G (p.Tyr1103Ter)	rs899831488
NM_198525.3(KIF7):c.3318+1G>T
NM_198525.3(KIF7):c.423_428del (p.His142_Val143del)	rs1555425036
NM_198525.3(KIF7):c.662_665dup (p.Val223fs)
NM_198525.3(KIF7):c.716_720dup (p.Gly241fs)	rs1567067864

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