List of variants in gene FAM20A, PRKAR1A studied for Amelogenesis imperfecta type 1G

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: 73

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HGVS	dbSNP	gnomAD frequency
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser)	rs2907373	0.72701
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys)	rs2302234	0.30437
NM_017565.4(FAM20A):c.928+16G>A	rs16973042	0.01441
NM_017565.4(FAM20A):c.1314C>T (p.His438=)	rs78050433	0.00053
NM_017565.4(FAM20A):c.1175G>A (p.Arg392Gln)	rs376802484	0.00016
NM_017565.4(FAM20A):c.1472C>T (p.Thr491Ile)	rs182816928	0.00015
NM_017565.4(FAM20A):c.792C>T (p.Ile264=)	rs139591838	0.00014
NM_017565.4(FAM20A):c.984T>C (p.Ala328=)	rs374633547	0.00011
NM_017565.4(FAM20A):c.813-2A>G	rs587776912	0.00003
NM_017565.4(FAM20A):c.1293C>T (p.Asn431=)	rs377240666	0.00002
NM_017565.4(FAM20A):c.929C>T (p.Ala310Val)	rs1371933127	0.00002
NM_017565.4(FAM20A):c.721C>T (p.Gln241Ter)	rs746063338	0.00001
NM_017565.4(FAM20A):c.826C>T (p.Arg276Ter)	rs387907215	0.00001
NC_000017.11:g.68534268_68541798del
NM_017565.4(FAM20A):c.1012G>C (p.Gly338Arg)
NM_017565.4(FAM20A):c.1022C>T (p.Ser341Phe)
NM_017565.4(FAM20A):c.1033C>T (p.Pro345Ser)
NM_017565.4(FAM20A):c.1082G>A (p.Arg361His)
NM_017565.4(FAM20A):c.1091C>T (p.Thr364Ile)
NM_017565.4(FAM20A):c.1092_1093del (p.Leu365fs)
NM_017565.4(FAM20A):c.1094T>C (p.Leu365Pro)	rs956049429
NM_017565.4(FAM20A):c.1109+3_1109+7delinsTGGTC	rs2143495812
NM_017565.4(FAM20A):c.1110-12_1110-10del
NM_017565.4(FAM20A):c.1112G>A (p.Trp371Ter)
NM_017565.4(FAM20A):c.1168A>G (p.Ser390Gly)
NM_017565.4(FAM20A):c.1169G>A (p.Ser390Asn)	rs771912912
NM_017565.4(FAM20A):c.1175_1179del (p.Arg392fs)	rs587776913
NM_017565.4(FAM20A):c.1183A>G (p.Asn395Asp)
NM_017565.4(FAM20A):c.1207G>A (p.Asp403Asn)
NM_017565.4(FAM20A):c.1210T>C (p.Phe404Leu)
NM_017565.4(FAM20A):c.1219+14C>T
NM_017565.4(FAM20A):c.1219+3_1219+6del	rs2086254952
NM_017565.4(FAM20A):c.1231C>T (p.Arg411Trp)	rs149970399
NM_017565.4(FAM20A):c.1286T>C (p.Leu429Pro)
NM_017565.4(FAM20A):c.1288G>C (p.Asp430His)
NM_017565.4(FAM20A):c.1294G>A (p.Ala432Thr)	rs200599944
NM_017565.4(FAM20A):c.1294G>T (p.Ala432Ser)	rs200599944
NM_017565.4(FAM20A):c.1301+3G>A
NM_017565.4(FAM20A):c.1301+5G>A
NM_017565.4(FAM20A):c.1301G>C (p.Gly434Ala)
NM_017565.4(FAM20A):c.1340C>T (p.Ser447Leu)
NM_017565.4(FAM20A):c.1361+16G>A
NM_017565.4(FAM20A):c.1361+1G>A
NM_017565.4(FAM20A):c.1432C>T (p.Arg478Ter)	rs139620139
NM_017565.4(FAM20A):c.1442T>C (p.Leu481Pro)
NM_017565.4(FAM20A):c.1447del (p.Glu483fs)	rs762205955
NM_017565.4(FAM20A):c.1478C>T (p.Pro493Leu)
NM_017565.4(FAM20A):c.1481A>G (p.His494Arg)
NM_017565.4(FAM20A):c.1486C>T (p.Leu496Phe)
NM_017565.4(FAM20A):c.1538T>C (p.Ile513Thr)
NM_017565.4(FAM20A):c.1567G>C (p.Val523Leu)
NM_017565.4(FAM20A):c.1570G>A (p.Asp524Asn)
NM_017565.4(FAM20A):c.1609G>A (p.Ala537Thr)
NM_017565.4(FAM20A):c.720-2A>G	rs587777530
NM_017565.4(FAM20A):c.727C>T (p.Arg243Ter)
NM_017565.4(FAM20A):c.742C>T (p.Pro248Ser)
NM_017565.4(FAM20A):c.757T>C (p.Tyr253His)	rs2143526028
NM_017565.4(FAM20A):c.758A>G (p.Tyr253Cys)	rs2143526006
NM_017565.4(FAM20A):c.770T>G (p.Phe257Cys)
NM_017565.4(FAM20A):c.793G>A (p.Ala265Thr)
NM_017565.4(FAM20A):c.794C>T (p.Ala265Val)
NM_017565.4(FAM20A):c.813-1G>C
NM_017565.4(FAM20A):c.853A>G (p.Ile285Val)
NM_017565.4(FAM20A):c.885del (p.Thr296fs)	rs1568724130
NM_017565.4(FAM20A):c.889A>G (p.Lys297Glu)
NM_017565.4(FAM20A):c.907_908del (p.Ser303fs)
NM_017565.4(FAM20A):c.915_918del (p.Phe305fs)	rs760163489
NM_017565.4(FAM20A):c.928+2T>C
NM_017565.4(FAM20A):c.937G>A (p.Val313Met)
NM_017565.4(FAM20A):c.964A>G (p.Met322Val)
NM_017565.4(FAM20A):c.976_978del (p.Glu326del)
NM_017565.4(FAM20A):c.996_997delinsAG (p.Asn332_Pro333delinsLysAla)
NM_017565.4(FAM20A):c.[129del;734_735del]

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