List of variants in gene ALKBH8 studied for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_138775.3(ALKBH8):c.720T>C (p.Asp240=)	rs645056	0.76333
NM_138775.3(ALKBH8):c.878+31T>A	rs589788	0.52394
NM_138775.3(ALKBH8):c.1288-3C>T	rs654093	0.45699
NM_138775.3(ALKBH8):c.1030+9A>G	rs12574614	0.24106
NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg)	rs150879765	0.00064
NM_138775.3(ALKBH8):c.1105C>T (p.Arg369Trp)	rs745922825	0.00001
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro)	rs1565312540	0.00001
NM_138775.3(ALKBH8):c.844A>T (p.Met282Leu)	rs763543231	0.00001
NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs)
NM_138775.3(ALKBH8):c.1442G>A (p.Arg481His)	rs532327456
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)	rs375189195
NM_138775.3(ALKBH8):c.1675del (p.Arg559fs)
NM_138775.3(ALKBH8):c.1785del (p.Trp596fs)	rs1591234203
NM_138775.3(ALKBH8):c.1874G>A (p.Arg625His)
NM_138775.3(ALKBH8):c.772-72_772-71del	rs5794554
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)

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