List of variants studied for Spastic ataxia 4

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_018109.4(MTPAP):c.555+19C>T	rs1047988	0.25271
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys)	rs1047991	0.24641
NM_018109.4(MTPAP):c.157+20C>T	rs191816760	0.00160
NM_018109.4(MTPAP):c.346G>A (p.Val116Ile)	rs560622337	0.00009
NM_018109.4(MTPAP):c.1550C>T (p.Pro517Leu)	rs140416149	0.00005
NM_018109.4(MTPAP):c.1624A>G (p.Thr542Ala)	rs756511637	0.00004
NM_018109.4(MTPAP):c.468G>C (p.Gln156His)	rs547303023	0.00003
NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp)	rs267606900	0.00001
NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)	rs1467669107	0.00001
NM_018109.4(MTPAP):c.842C>G (p.Thr281Ser)	rs771770775	0.00001
NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)	rs2538447332
NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu)	rs1057518710
NM_018109.4(MTPAP):c.1673T>C (p.Leu558Pro)	rs761755004

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