List of variants in gene FAM20C reported as pathogenic by OMIM

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_020223.4(FAM20C):c.1645C>T (p.Arg549Trp)	rs796051850	0.00001
NM_020223.4(FAM20C):c.796G>A (p.Gly266Arg)	rs796051875	0.00001
NM_020223.4(FAM20C):c.982C>T (p.Pro328Ser)	rs797044462	0.00001
NG_033970.2:g.(8164_21328)_(21408_56449)del
NM_020223.4(FAM20C):c.1093G>C (p.Gly365Arg)	rs267606795
NM_020223.4(FAM20C):c.1094G>A (p.Gly365Asp)	rs2115171312
NM_020223.4(FAM20C):c.1136G>A (p.Gly379Glu)	rs796051852
NM_020223.4(FAM20C):c.1163T>G (p.Leu388Arg)	rs796051849
NM_020223.4(FAM20C):c.1351G>A (p.Asp451Asn)	rs2115173146
NM_020223.4(FAM20C):c.1364-2A>G	rs796051853
NM_020223.4(FAM20C):c.1446-1G>A	rs796051855
NM_020223.4(FAM20C):c.737T>A (p.Ile246Asn)	rs796051874
NM_020223.4(FAM20C):c.956+5G>C	rs796051854
NM_020223.4(FAM20C):c.957-3C>G	rs796051851

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