ClinVar Miner

List of variants in gene PYCR1 studied for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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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.334C>T (p.Arg112Trp) rs147653673 0.00097
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.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.790C>T (p.Arg264Cys) rs770539885 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.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.559G>A (p.Ala187Thr) rs763349891
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+10del rs779525010
NM_006907.4(PYCR1):c.67+2T>A rs2041207320
NM_006907.4(PYCR1):c.797+2_797+5del rs1371235353

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