ClinVar Miner

List of variants in gene PYCR1 reported as benign for congenital entropion

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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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.576T>C (p.Gly192=) rs872029 0.07170
NM_006907.4(PYCR1):c.*272G>A rs3744807 0.00977
NM_006907.4(PYCR1):c.894C>T (p.Thr298=) rs35589179 0.00828
NM_006907.4(PYCR1):c.*68C>T rs113083225 0.00744
NM_006907.4(PYCR1):c.540+11C>T rs149159844 0.00674
NM_006907.4(PYCR1):c.-62G>A rs573221309 0.00001

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