ClinVar Miner

List of variants in gene PYCR1 reported as likely pathogenic for cutis laxa

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.633+1G>C rs144346996 0.00008
NM_006907.4(PYCR1):c.752G>A (p.Arg251His) rs121918378 0.00006
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) rs34575645 0.00005
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys) rs756363870 0.00004
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly) rs1180294322 0.00001
NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe) rs767581950 0.00001
NM_006907.4(PYCR1):c.151A>T (p.Lys51Ter)
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs) rs2041157497
NM_006907.4(PYCR1):c.386_387insCGCA (p.Glu130fs)
NM_006907.4(PYCR1):c.540+1G>T rs752297179
NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr) rs2143872369
NM_006907.4(PYCR1):c.575del (p.Gly192fs)

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