List of variants in gene LOC129996933, OSTM1 studied for autosomal recessive osteopetrosis

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)	rs202093691	0.00068
NM_014028.4(OSTM1):c.49T>G (p.Trp17Gly)	rs546399681	0.00028
NM_014028.4(OSTM1):c.-67G>T	rs532210400	0.00005
NM_014028.4(OSTM1):c.67C>T (p.Leu23=)	rs886060973	0.00004
NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu)	rs752132846	0.00004
NM_014028.4(OSTM1):c.-52G>T	rs886060974
NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter)	rs119460973

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