ClinVar Miner

List of variants in gene PDE6D reported as likely benign for bone development disease

Included ClinVar conditions (614):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084 0.00224
NM_002601.4(PDE6D):c.406G>A (p.Asp136Asn) rs142298615 0.00181
NM_002601.4(PDE6D):c.140-3C>T rs368073853 0.00079
NM_002601.4(PDE6D):c.258C>T (p.Cys86=) rs151191604 0.00034
NM_002601.4(PDE6D):c.201G>A (p.Ser67=) rs764377846 0.00006
NM_002601.4(PDE6D):c.408C>T (p.Asp136=) rs547505745 0.00006
NM_002601.4(PDE6D):c.174A>G (p.Ala58=) rs139835658 0.00005
NM_002601.4(PDE6D):c.50+16C>A rs993589615 0.00004
NM_002601.4(PDE6D):c.363C>T (p.Ser121=) rs1206823310 0.00002
NM_002601.4(PDE6D):c.140-19T>C rs766425103 0.00001
NM_002601.4(PDE6D):c.405C>T (p.Asp135=) rs373459369 0.00001
NM_002601.4(PDE6D):c.50+11G>C rs758184957 0.00001
NM_002601.4(PDE6D):c.50+18G>A rs747869732 0.00001
NM_002601.4(PDE6D):c.117T>A (p.Ser39=) rs2106261946
NM_002601.4(PDE6D):c.126T>G (p.Gly42=) rs2106261935
NM_002601.4(PDE6D):c.139+14C>G
NM_002601.4(PDE6D):c.139+19T>C
NM_002601.4(PDE6D):c.139+20C>G
NM_002601.4(PDE6D):c.183A>G (p.Arg61=) rs2106261155
NM_002601.4(PDE6D):c.222C>T (p.Phe74=)
NM_002601.4(PDE6D):c.225C>T (p.Arg75=)
NM_002601.4(PDE6D):c.345C>T (p.Ser115=)
NM_002601.4(PDE6D):c.372-7C>A rs2048664865
NM_002601.4(PDE6D):c.39G>A (p.Arg13=)
NM_002601.4(PDE6D):c.50+7G>T rs2106294152
NM_002601.4(PDE6D):c.51-12A>G
NM_002601.4(PDE6D):c.51-19del
NM_002601.4(PDE6D):c.67C>A (p.Arg23=)

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