List of variants reported as pathogenic for Patterson-Stevenson-Fontaine syndrome by OMIM

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_022458.4(LMBR1):c.423+4915C>T	rs587779752	0.00001
NM_022458.4(LMBR1):c.423+4618C>G	rs606231146
NM_022458.4(LMBR1):c.423+4808T>C	rs606231152
NM_022458.4(LMBR1):c.423+4810G>A	rs606231230
NM_022458.4(LMBR1):c.423+4818A>T	rs606231148
NM_022458.4(LMBR1):c.423+4842T>C	rs606231149
NM_022458.4(LMBR1):c.423+4847T>G	rs606231231
NM_022458.4(LMBR1):c.423+4909C>T	rs606231153
NM_022458.4(LMBR1):c.423+5134C>G	rs606231151
NM_022458.4(LMBR1):c.423+5252A>G	rs606231150
ZRS, 295T-C
ZRS, 297G-A
ZRS, 328C-G
ZRS, 329T-C
ZRS, 334T-G
ZRS, 396C-T
ZRS, 621C-G
ZRS, 739A-G

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