ClinVar Miner

List of variants in gene PYCR1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.261G>A (p.Glu87=) rs138261889 0.00144
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_006907.4(PYCR1):c.*307G>T rs201670221 0.00016
NM_006907.4(PYCR1):c.249C>T (p.Gly83=) rs374503467 0.00008
NM_006907.4(PYCR1):c.540+1G>A rs752297179 0.00002
NM_006907.4(PYCR1):c.400G>A (p.Val134Met) rs767318427 0.00001
NM_006907.4(PYCR1):c.797+2T>C rs768235246 0.00001
NM_006907.4(PYCR1):c.-28G>A
NM_006907.4(PYCR1):c.338C>T (p.Pro113Leu) rs748704329
NM_006907.4(PYCR1):c.349G>T (p.Val117Phe) rs1356658811
NM_006907.4(PYCR1):c.424C>T (p.Gln142Ter) rs2041137663
NM_006907.4(PYCR1):c.436G>A (p.Gly146Arg) rs748476036
NM_006907.4(PYCR1):c.542C>T (p.Ala181Val) rs2041122875
NM_006907.4(PYCR1):c.635G>A (p.Gly212Glu) rs1194906519
NM_006907.4(PYCR1):c.931C>A (p.Arg311Ser) rs143982437

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