List of variants reported as uncertain significance for autosomal recessive disease by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)	rs34071195	0.01772
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)	rs78039319	0.01071
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)	rs45501594	0.00688
NM_001378454.1(ALMS1):c.11872+18G>A	rs139647347	0.00482
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)	rs58093963	0.00429
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile)	rs188807564	0.00267
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)	rs148040591	0.00225
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)	rs73945001	0.00195
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)	rs199573929	0.00146
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)	rs78102263	0.00071
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val)	rs202111717	0.00041
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)	rs201971114	0.00037
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)	rs201213079	0.00026
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)	rs199615641	0.00022
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln)	rs372563916	0.00017
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)	rs376989302	0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)	rs200368564	0.00013
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)	rs150331660	0.00011
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)	rs373638043	0.00006
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro)	rs553406974	0.00004
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)	rs754439156	0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)	rs200718841	0.00003
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val)	rs773630367	0.00002
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)	rs771595125
NM_001378454.1(ALMS1):c.4250G>A (p.Arg1417Gln)	rs771362238

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