List of variants in gene CAMTA1, LOC126805603 studied for cerebellar dysfunction with variable cognitive and behavioral abnormalities

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

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)	rs137974312	0.00106
NM_015215.4(CAMTA1):c.3853G>A (p.Glu1285Lys)	rs375995525	0.00012
NM_015215.4(CAMTA1):c.3892C>T (p.Arg1298Trp)	rs145964068	0.00003
NM_015215.4(CAMTA1):c.3828C>A (p.Ser1276Arg)
NM_015215.4(CAMTA1):c.3862A>G (p.Ser1288Gly)
NM_015215.4(CAMTA1):c.3922_3930del (p.Ala1308_Phe1310del)
NM_015215.4(CAMTA1):c.4049_4051delinsGTGCTGC (p.Pro1350fs)	rs2096785839
NM_015215.4(CAMTA1):c.4103_4104del (p.Glu1368fs)	rs1577313897
NM_015215.4(CAMTA1):c.4115C>T (p.Thr1372Ile)

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