ClinVar Miner

List of variants in gene PYCR1 reported as uncertain significance for congenital entropion

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_006907.4(PYCR1):c.*477C>T rs539637881 0.00236
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.*352C>G rs149456432 0.00090
NM_006907.4(PYCR1):c.*440C>T rs562300433 0.00063
NM_006907.4(PYCR1):c.399C>T (p.Thr133=) rs148883988 0.00031
NM_006907.4(PYCR1):c.*62G>C rs566605955 0.00030
NM_006907.4(PYCR1):c.285C>T (p.Cys95=) rs113491328 0.00029
NM_006907.4(PYCR1):c.615C>T (p.Leu205=) rs755711481 0.00028
NM_006907.4(PYCR1):c.508G>A (p.Val170Ile) rs199585131 0.00024
NM_006907.4(PYCR1):c.-196G>A rs764095488 0.00021
NM_006907.4(PYCR1):c.176C>T (p.Thr59Met) rs150227130 0.00017
NM_006907.4(PYCR1):c.*307G>T rs201670221 0.00016
NM_006907.4(PYCR1):c.-48G>C rs376495113 0.00013
NM_006907.4(PYCR1):c.*150C>T rs968788815 0.00011
NM_006907.4(PYCR1):c.180G>A (p.Val60=) rs142458410 0.00009
NM_006907.4(PYCR1):c.768C>T (p.Asn256=) rs553609380 0.00008
NM_006907.4(PYCR1):c.*245T>C rs376135136 0.00007
NM_006907.4(PYCR1):c.902C>T (p.Ser301Leu) rs373840170 0.00007
NM_006907.4(PYCR1):c.110T>G (p.Met37Arg) rs138792258 0.00006
NM_006907.4(PYCR1):c.717C>T (p.Ile239=) rs745549446 0.00004
NM_006907.4(PYCR1):c.*104G>A rs553890358 0.00003
NM_006907.4(PYCR1):c.*229C>T rs759568144 0.00001
NM_006907.4(PYCR1):c.*769C>T rs545491725 0.00001
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys) rs770539885 0.00001
NM_006907.4(PYCR1):c.*195A>T rs2041031817
NM_006907.4(PYCR1):c.*482G>A rs570757755
NM_006907.4(PYCR1):c.*504G>C rs886053569
NM_006907.4(PYCR1):c.*622G>A rs886053568
NM_006907.4(PYCR1):c.*699G>T rs886053567
NM_006907.4(PYCR1):c.-77G>A rs886053571
NM_006907.4(PYCR1):c.164A>T (p.His55Leu) rs777125670
NM_006907.4(PYCR1):c.346A>G (p.Arg116Gly) rs2041142934
NM_006907.4(PYCR1):c.409A>G (p.Thr137Ala) rs1243324455
NM_006907.4(PYCR1):c.431A>G (p.Glu144Gly) rs2041137102
NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr) rs763349891
NM_006907.4(PYCR1):c.770C>T (p.Ala257Val)
NM_006907.4(PYCR1):c.798-4C>T rs1265069029

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