List of variants in gene DHTKD1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)	rs117225135	0.00190
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln)	rs78189904	0.00074
NM_018706.7(DHTKD1):c.2742C>T (p.Leu914=)	rs201680688	0.00041
NM_018706.7(DHTKD1):c.2048-4C>T	rs375385370	0.00022
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)	rs138884194	0.00010
NM_018706.7(DHTKD1):c.1246C>T (p.Gln416Ter)	rs200722918	0.00006
GRCh37/hg19 10p14(chr10:12111033-12162887)x3
NM_018706.7(DHTKD1):c.155-1G>T	rs1363284659
NM_018706.7(DHTKD1):c.1610A>G (p.Lys537Arg)
NM_018706.7(DHTKD1):c.1978C>T (p.Leu660=)	rs199541122
NM_018706.7(DHTKD1):c.2326G>A (p.Val776Met)
NM_018706.7(DHTKD1):c.2416G>A (p.Val806Met)
NM_018706.7(DHTKD1):c.2509G>A (p.Glu837Lys)
NM_018706.7(DHTKD1):c.2537T>C (p.Leu846Ser)
NM_018706.7(DHTKD1):c.278T>C (p.Val93Ala)

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