List of variants in gene HPGD studied for Isolated congenital digital clubbing; Hypertrophic osteoarthropathy, primary, autosomal recessive, 1

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000860.6(HPGD):c.634G>A (p.Asp212Asn)	rs148874494	0.00475
NM_000860.6(HPGD):c.422-20G>A	rs28510609	0.00431
NM_000860.6(HPGD):c.284A>G (p.Asn95Ser)	rs199975458	0.00009
NM_000860.6(HPGD):c.*41A>G	rs201828747	0.00004
NM_000860.6(HPGD):c.*157A>G	rs886059252	0.00002
NM_000860.6(HPGD):c.307del (p.Thr103fs)	rs1164877128
NM_000860.6(HPGD):c.310_311del (p.Leu104fs)	rs587777719
NM_000860.6(HPGD):c.453T>G (p.Tyr151Ter)

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