List of variants in gene PARN studied for Dyskeratosis congenita, autosomal recessive 6

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002582.4(PARN):c.466G>T (p.Ala156Ser)	rs200103366	0.00038
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys)	rs201765587	0.00009
NM_002582.4(PARN):c.448C>T (p.Arg150Cys)	rs777558836	0.00004
NM_002582.4(PARN):c.692A>G (p.Glu231Gly)	rs757910862	0.00004
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp)	rs754368658	0.00001
NM_002582.4(PARN):c.918+1G>T	rs756132866	0.00001
NM_002582.4(PARN):c.948_949del (p.Val318fs)	rs1461036243	0.00001
NM_002582.3(PARN):c.962+295_1263-8706del
NM_002582.4(PARN):c.1148C>T (p.Ala383Val)	rs786200999
NM_002582.4(PARN):c.1257dup (p.Asn420Ter)	rs942538351
NM_002582.4(PARN):c.1285G>A (p.Asp429Asn)	rs1967639910
NM_002582.4(PARN):c.24del (p.Phe8fs)	rs1555512179
NM_002582.4(PARN):c.659+4_659+7del	rs759131762
NM_002582.4(PARN):c.819_820insTAGAAATCATTTCTAGAGTC (p.Ile274Ter)	rs1596812454
NM_002582.4(PARN):c.863dup (p.Asn288fs)	rs786201001

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