List of variants in gene HYDIN reported as pathogenic for ciliopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001270974.2(HYDIN):c.3786-1G>T	rs373501414	0.00003
NM_001270974.2(HYDIN):c.3175C>T (p.Arg1059Ter)	rs916834956	0.00001
NM_001270974.2(HYDIN):c.10012G>T (p.Glu3338Ter)
NM_001270974.2(HYDIN):c.10949-2A>G
NM_001270974.2(HYDIN):c.1147C>T (p.Arg383Ter)
NM_001270974.2(HYDIN):c.12530del (p.Pro4177fs)	rs2038565518
NM_001270974.2(HYDIN):c.13709del (p.Pro4570fs)
NM_001270974.2(HYDIN):c.1529del (p.Phe510fs)
NM_001270974.2(HYDIN):c.1797C>G (p.Tyr599Ter)
NM_001270974.2(HYDIN):c.3252dup (p.Val1085fs)
NM_001270974.2(HYDIN):c.4888A>T (p.Lys1630Ter)
NM_001270974.2(HYDIN):c.8008C>T (p.Gln2670Ter)	rs2143778936
NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)	rs397515414

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