List of variants in gene PYCR1 studied for Autosomal recessive cutis laxa type 2B

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_006907.4(PYCR1):c.903A>G (p.Ser301=)	rs61747618	0.98394
NM_006907.4(PYCR1):c.138+37C>T	rs34419046	0.79384
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile)	rs199585131	0.00024
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)	rs121918376	0.00014
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)	rs121918374	0.00007
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg)	rs34575645	0.00005
NM_006907.4(PYCR1):c.535G>A (p.Ala179Thr)	rs139751598	0.00004
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys)	rs756363870	0.00004
NM_006907.4(PYCR1):c.540+1G>A	rs752297179	0.00002
NM_006907.4(PYCR1):c.616G>A (p.Gly206Arg)	rs121918375	0.00002
NM_006907.4(PYCR1):c.356G>A (p.Arg119His)	rs121918377	0.00001
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly)	rs1180294322	0.00001
NM_006907.4(PYCR1):c.59dup (p.Ala21fs)	rs762218403	0.00001
NM_006907.4(PYCR1):c.722C>T (p.Ala241Val)	rs770505872	0.00001
NM_006907.4(PYCR1):c.728A>G (p.His243Arg)	rs2041098364	0.00001
NM_006907.4(PYCR1):c.755C>T (p.Ser252Phe)	rs767581950	0.00001
NM_006907.4(PYCR1):c.11G>T (p.Gly4Val)	rs1598358440
NM_006907.4(PYCR1):c.11del (p.Gly4fs)	rs1598358449
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs)	rs2041157497
NM_006907.4(PYCR1):c.291_294dup (p.Val99fs)
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly)	rs2041142934
NM_006907.4(PYCR1):c.355C>G (p.Arg119Gly)	rs121918376
NM_006907.4(PYCR1):c.540+1G>T	rs752297179
NM_006907.4(PYCR1):c.556G>T (p.Asp186Tyr)	rs2143872369
NM_006907.4(PYCR1):c.616G>T (p.Gly206Trp)	rs121918375
NM_006907.4(PYCR1):c.618_633+7del	rs1598354372
NM_006907.4(PYCR1):c.67+2T>A	rs2041207320
NM_006907.4(PYCR1):c.797+2_797+5del	rs1371235353

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