ClinVar Miner

List of variants in gene PYCR1 studied for PYCR1-related de Barsy syndrome

Included ClinVar conditions (2):
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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
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.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_006907.4(PYCR1):c.752G>A (p.Arg251His) rs121918378 0.00006
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.743G>A (p.Gly248Glu) rs281875319 0.00001
NM_006907.4(PYCR1):c.790C>T (p.Arg264Cys) rs770539885 0.00001
NM_006907.4(PYCR1):c.345del (p.Arg116fs) rs758601634
NM_006907.4(PYCR1):c.386_387insCGCA (p.Glu130fs)
NM_006907.4(PYCR1):c.559G>A (p.Ala187Thr) rs763349891
NM_006907.4(PYCR1):c.67+10del rs779525010
NM_006907.4(PYCR1):c.770C>T (p.Ala257Val)

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