List of variants in gene COL17A1 reported by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)	rs121912771	0.00015
NM_000494.4(COL17A1):c.1601del (p.Asp534fs)	rs753898533	0.00001
NM_000494.4(COL17A1):c.3156C>T (p.Gly1052=)	rs760714959	0.00001
NM_000494.4(COL17A1):c.3676C>T (p.Arg1226Ter)	rs121912769	0.00001
NM_000494.3(COL17A1):c.418_419del	rs773423028
NM_000494.4(COL17A1):c.1898G>A (p.Gly633Asp)	rs121912773
NM_000494.4(COL17A1):c.2336-1G>T	rs1589562891
NM_000494.4(COL17A1):c.2336-2A>G	rs1478395810
NM_000494.4(COL17A1):c.2407G>T (p.Gly803Ter)	rs752317971
NM_000494.4(COL17A1):c.2564T>G (p.Leu855Ter)	rs121912772
NM_000494.4(COL17A1):c.2816C>T (p.Thr939Ile)	rs797045142
NM_000494.4(COL17A1):c.2840_2844del (p.Leu947fs)	rs1564673127
NM_000494.4(COL17A1):c.2861del (p.Gly954fs)	rs2134581672
NM_000494.4(COL17A1):c.3067C>T (p.Gln1023Ter)	rs121912770
NM_000494.4(COL17A1):c.3899_3900del (p.Ser1300fs)	rs2134563935
NM_000494.4(COL17A1):c.4045dup (p.Ala1349fs)
NM_000494.4(COL17A1):c.433C>T (p.Arg145Ter)	rs121912774

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