List of variants in gene ATP6V0A2 reported as pathogenic for bone development disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_012463.4(ATP6V0A2):c.1514+1G>A	rs374480381	0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)	rs80356750	0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)	rs80356758	0.00001
ATP6V0A2, 1-BP INS, 100A
NM_012463.4(ATP6V0A2):c.1002del (p.Leu335fs)	rs1956563926
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del	rs367543007
NM_012463.4(ATP6V0A2):c.2231_2255dup (p.Tyr753fs)	rs1220385043
NM_012463.4(ATP6V0A2):c.2356_2362del (p.Gly786fs)	rs1566294545
NM_012463.4(ATP6V0A2):c.294+1G>A	rs80356751
NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer)	rs1956462432

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