List of variants in gene DVL3 studied for autosomal dominant Robinow syndrome

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

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_004423.4(DVL3):c.1120G>A (p.Ala374Thr)	rs1714612048
NM_004423.4(DVL3):c.1473C>G (p.Tyr491Ter)	rs2109022762
NM_004423.4(DVL3):c.1585del (p.Ala529fs)	rs869025215
NM_004423.4(DVL3):c.1592del (p.Pro531fs)	rs1577052471
NM_004423.4(DVL3):c.1617del (p.Gln539fs)	rs1553811652
NM_004423.4(DVL3):c.1715-1G>A	rs869025217
NM_004423.4(DVL3):c.1715-1G>C	rs869025217
NM_004423.4(DVL3):c.1715-2A>C	rs869025216
NM_004423.4(DVL3):c.1715-2A>G	rs869025216
NM_004423.4(DVL3):c.1715-2del	rs2109023862
NM_004423.4(DVL3):c.1716del (p.Ser573fs)	rs869025218
NM_004423.4(DVL3):c.1738C>T (p.Arg580Cys)
NM_004423.4(DVL3):c.1749del (p.Ser583fs)	rs869025219
NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs)	rs1577052785
NM_004423.4(DVL3):c.1949_1950del (p.His650fs)
NM_004423.4(DVL3):c.292del (p.Glu98fs)
NM_004423.4(DVL3):c.706A>G (p.Ser236Gly)	rs1714548192
NM_004423.4(DVL3):c.950G>A (p.Arg317Gln)

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