List of variants reported as pathogenic by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	rs375168720	0.00006
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)	rs769212398	0.00001
NM_025137.4(SPG11):c.6205+1G>A	rs753650233	0.00001
NM_000051.4(ATM):c.2922-1G>A	rs1555084931
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)	rs118203597
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)	rs797046101
NM_001080522.2(CC2D2A):c.3289delG	rs386833751
NM_001127222.2(CACNA1A):c.4089+2T>G	rs1600198365
NM_001164508.2(NEB):c.20157+2T>A	rs1553717306
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)	rs1553555882
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	rs724159994
NM_004006.3(DMD):c.3982C>T (p.Gln1328Ter)	rs745640786
NM_004006.3(DMD):c.4519-2A>C	rs2097958830
NM_005257.6(GATA6):c.23G>A (p.Trp8Ter)	rs2033033528
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)	rs770901638
NM_014946.4(SPAST):c.1322-2A>G	rs1553318208
NM_015915.5(ATL1):c.1472G>A (p.Trp491Ter)	rs2039543082
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)	rs312262784

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